Harris, P. C., Torres, V. E.. Polycystic kidney disease, autosomal dominant. In Adam, MP, Ardinger, HH, Pagon, RA, et al. eds. GeneReviews(®). Seattle (WA): University of Washington, Seattle. Copyright © 1993–2020, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved; 1993.Google Scholar

Boyer, O., Gagnadoux, M. F., Guest, G., et al. Prognosis of autosomal dominant polycystic kidney disease diagnosed in utero or at birth. Pediatr Nephrol. 2007;22:380–8.CrossRefGoogle ScholarPubMed

Brun, M., Maugey-Laulom, B., Eurin, D., Didier, F., Avni, E. F.. Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: A multicenter study. Ultrasound Obstet Gynecol. 2004;24:55–61.CrossRefGoogle ScholarPubMed

Reuss, A., Wladimiroff, J. W., Stewart, P. A., Niermeijer, M. F.. Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease. Ultrasound Med Biol. 1990;16:355–9.CrossRefGoogle ScholarPubMed

Subramanian, S., Ahmad, T.. Polycystic Kidney Disease Of Childhood. StatPearls. Treasure Island (FL): StatPearls Publishing. Copyright © 2020, StatPearls Publishing LLC.; 2020.Google Scholar

Bernstein, J.. Classification of renal cysts. Perspect Nephrol Hypertens. 1976;4:7–30.Google Scholar

Cadnapaphornchai, M. A.. Autosomal dominant polycystic kidney disease in children. Curr Opin Pediatr. 2015;27:193–200.CrossRefGoogle ScholarPubMed

Kolb, R. J., Nauli, S. M.. Ciliary dysfunction in polycystic kidney disease: An emerging model with polarizing potential. Front Biosci. 2008;13:4451–66.Google ScholarPubMed

Arslanhan, M. D., Gulensoy, D., Firat-Karalar, E. N.. A proximity mapping journey into the biology of the mammalian centrosome/cilium complex. Cells. 2020;9:1390.CrossRefGoogle ScholarPubMed

Wheway, G., Mitchison, H. M.. Opportunities and challenges for molecular understanding of ciliopathies-the 100,000 genomes project. Front Genet. 2019;10:127.CrossRefGoogle ScholarPubMed

Bacallao, R. L., McNeill, H.. Cystic kidney diseases and planar cell polarity signaling. Clin Genet. 2009;75:107–17.Google Scholar

Delling, M., Indzhykulian, A. A., Liu, X., et al. Primary cilia are not calcium-responsive mechanosensors. Nature. 2016;531:656–60.CrossRefGoogle Scholar

Bergmann, C., Guay-Woodford, L. M., Harris, P. C., Horie, S., Peters, D. J. M., Torres, V. E.. Polycystic kidney disease. Nat Rev Dis Primers. 2018;4:50.Google Scholar

Gabow, P. A., Johnson, A. M., Kaehny, W. D., et al. Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. Kidney Int. 1992;41: 1311–19.Google Scholar

Audrézet, M. P., Corbiere, C., Lebbah, S., et al. Comprehensive PKD1 and PKD2 mutation analysis in prenatal autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2016;27:722–9.CrossRefGoogle ScholarPubMed

Heyer, C. M., Sundsbak, J. L., Abebe, K. Z., et al. Predicted mutation strength of nontruncating PKD1 mutations aids genotype-phenotype correlations in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2016;27:2872–84.CrossRefGoogle ScholarPubMed

Porath, B., Gainullin, V. G., Cornec-Le Gall, E., et al. Mutations in GANAB, encoding the glucosidase IIα subunit, cause autosomal-dominant polycystic kidney and liver disease. Am J Hum Genet. 2016;98:1193–207.Google Scholar

Cornec-Le Gall, E., Olson, R. J., Besse, W., et al. Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease. Am J Hum Genet. 2018;102:832–44.Google Scholar

Zhou, J.. Polycystins and primary cilia: Primers for cell cycle progression. Annu Rev Physiol. 2009;71:83–113.CrossRefGoogle ScholarPubMed

Tsiokas, L., Kim, S., Ong, E. C.. Cell biology of polycystin-2. Cell Signal. 2007;19:444–53.CrossRefGoogle ScholarPubMed

Nauli, S. M., Alenghat, F. J., Luo, Y., et al. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet. 2003;33:129–37.CrossRefGoogle ScholarPubMed

Cornec-Le Gall, E., Audrézet, M. P., Chen, J. M., et al. Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol. 2013;24:1006–13.Google Scholar

Hateboer, N., v Dijk, M. A., Bogdanova, N., et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet. 1999;353:103–7.CrossRefGoogle ScholarPubMed

Harris, P. C., Bae, K. T., Rossetti, S., et al. Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2006;17:3013–19.CrossRefGoogle Scholar

Lu, W., Peissel, B., Babakhanlou, H., et al. Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation. Nat Genet. 1997;17:179–81.Google Scholar

Wu, G., Markowitz, G. S., Li, L., et al. Cardiac defects and renal failure in mice with targeted mutations in Pkd2. Nat Genet. 2000;24:75–8.Google Scholar

Bergmann, C., von Bothmer, J., Ortiz Brüchle, N., et al. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol. 2011;22:2047–56.CrossRefGoogle ScholarPubMed

Vujic, M., Heyer, C. M., Ars, E., et al. Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. J Am Soc Nephrol. 2010;21:1097–102.Google Scholar

Rossetti, S., Kubly, V. J., Consugar, M. B., et al. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease Kidney Int. 2009;75:848–55.Google Scholar

Hopp, K., Ward, C. J., Hommerding, C. J., et al. Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. J Clin Invest. 2012;122:4257–73.CrossRefGoogle ScholarPubMed

Ong, A. C., Harris, P. C.. A polycystin-centric view of cyst formation and disease: the polycystins revisited. Kidney Int. 2015;88:699–710.Google Scholar

Pei, Y., Lan, Z., Wang, K., et al. A missense mutation in PKD1 attenuates the severity of renal disease. Kidney Int. 2012;81:412–17.CrossRefGoogle ScholarPubMed

Brook-Carter, P. T., Peral, B., Ward, C. J., et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease – A contiguous gene syndrome. Nat Genet. 1994;8:328–32.Google Scholar

Consugar, M. B., Wong, W. C., Lundquist, P. A., et al. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int. 2008;74:1468–79.Google Scholar

Shamshirsaz, A. A., Reza Bekheirnia, M., Kamgar, M., et al. Autosomal-dominant polycystic kidney disease in infancy and childhood: Progression and outcome. Kidney Int. 2005;68:2218–24.CrossRefGoogle ScholarPubMed

Chapman, A. B., Devuyst, O., Eckardt, K. U., et al. Autosomal-dominant polycystic kidney disease (ADPKD): Executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2015;88:17–27.CrossRefGoogle ScholarPubMed

McDonald, R. A., Avner, E. D.. Inherited polycystic kidney disease in children. Semin Nephrology. 1991;11:632–42.Google Scholar

Seeman, T., Dusek, J., Vondrichová, H., et al. Ambulatory blood pressure correlates with renal volume and number of renal cysts in children with autosomal dominant polycystic kidney disease. Blood Press Monit. 2003;8:107–10.CrossRefGoogle ScholarPubMed

Graham, P. C., Lindop, G. B.. The anatomy of the renin-secreting cell in adult polycystic kidney disease. Kidney Int. 1988;33:1084–90.CrossRefGoogle ScholarPubMed

Helal, I., Reed, B., McFann, K., et al. Glomerular hyperfiltration and renal progression in children with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2011;6:2439–43.CrossRefGoogle ScholarPubMed

Euser, A. G., Sung, J. F., Reeves, S.. Fetal imaging prompts maternal diagnosis: autosomal dominant polycystic kidney disease. J Perinatol. 2015;35:537–8.Google Scholar

McBride, L., Wilkinson, C., Jesudason, S.. Management of autosomal dominant polycystic kidney disease (ADPKD) during pregnancy: Risks and challenges. Int J Womens Health. 2020;12:409–22.Google Scholar

Hogan, M. C., Abebe, K., Torres, V. E., et al. Liver involvement in early autosomal-dominant polycystic kidney disease. Clin Gastroenterol Hepatol. 2015;13:155–64.e6.Google Scholar

Bae, K. T., Zhu, F., Chapman, A. B., et al. Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort. Clin J Am Soc Nephrol. 2006;1:64–9.CrossRefGoogle Scholar

Chebib, F. T., Jung, Y., Heyer, C. M., et al. Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant. 2016;31:952–60.Google Scholar

Chebib, F. T., Harmon, A., Irazabal Mira, M. V., et al. Outcomes and durability of hepatic reduction after combined partial hepatectomy and cyst fenestration for massive polycystic liver disease. J Am Coll Surg. 2016;223:118–26.e1.CrossRefGoogle ScholarPubMed

Molina, D. K., DiMaio, V. J.. Normal organ weights in men: part II-the brain, lungs, liver, spleen, and kidneys. Am J Forensic Med Pathol. 2012;33:368–72.Google Scholar

Evan, A. P., Gardner, K. D. Jr., Bernstein, J.. Polypoid and papillary epithelial hyperplasia: A potential cause of ductal obstruction in adult polycystic disease. Kidney Int. 1979;16:743–50.CrossRefGoogle ScholarPubMed

Xue, C., Mei, C. L.. Polycystic kidney disease and renal fibrosis. In Liu, BC, Lan, HY, Lv, LL eds. Renal Fibrosis: Mechanisms and Therapies. Advances in Experimental Medicine and Biology, vol. 1165. Springer, Singapore, pp. 81–100.Google Scholar

Colbert, G. B., Elrggal, M. F., Gaur, L., Lerma, E. V.. Update and review of adult polycystic kidney disease. Dis Mon. 2020;66:100887.Google Scholar

Gattone, V. H., 2nd, Wang, X., Harris, P. C., Torres, V. E.. Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist. Nat Med. 2003;9:1323–6.Google Scholar

Blair, H. A.. Tolvaptan: A review in autosomal dominant polycystic kidney disease. Drugs. 2019;79:303–13.CrossRefGoogle ScholarPubMed

Schaefer, F., Mekahli, D., Emma, F., et al. Tolvaptan use in children and adolescents with autosomal dominant polycystic kidney disease: Rationale and design of a two-part, randomized, double-blind, placebo-controlled trial. Eur J Pediatr. 2019;178:1013–21.Google Scholar

Tuli, G., Tessaris, D., Einaudi, S., De Sanctis, L., Matarazzo, P.. Tolvaptan treatment in children with chronic hyponatremia due to inappropriate antidiuretic hormone secretion: A report of three cases. J Clin Res Pediatr Endocrinol. 2017;9:288–92.Google Scholar

Streets, A. J., Prosseda, P. P., Ong, A. C.. Polycystin-1 regulates ARHGAP35-dependent centrosomal RhoA activation and ROCK signaling. JCI Insight. 2020;5(16):e135385.Google Scholar

Gwinn, J. L., Landing, B. H.. Cystic diseases of the kidneys in infants and children. Radiol Clin North Am. 1968;6:191–204.CrossRefGoogle ScholarPubMed

Blyth, H., Ockenden, B. G.. Polycystic disease of kidney and liver presenting in childhood. J Med Genet. 1971;8:257–84.Google Scholar

Guay-Woodford, L. M., Bissler, J. J., Braun, M. C., et al. Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: Report of an international conference. J Pediatr. 2014;165:611–17.Google Scholar

Sweeney, W. E., Avner, E. D.. Polycystic kidney disease, autosomal recessive. In Adam, MP, Ardinger, HH, Pagon, RA, et al. eds. GeneReviews(®). Seattle (WA): University of Washington, Seattle. Copyright © 1993–2020, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved; 1993.Google Scholar

Zerres, K., Mücher, G., Bachner, L., et al. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet. 1994;7:429–32.Google Scholar

Lu, H., Galeano, M. C. R., , E. et al. Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nat Genet. 2017;49:1025–34.CrossRefGoogle ScholarPubMed

Ward, C. J., Hogan, M. C., Rossetti, S., et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet. 2002;30:259–69.CrossRefGoogle ScholarPubMed

Wang, S., Zhang, J., Nauli, S. M., et al. Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia. Mol Cell Biol. 2007;27:3241–52.Google Scholar

Ward, C. J., Yuan, D., Masyuk, T. V., et al. Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. Hum Mol Genet. 2003;12:2703–10.CrossRefGoogle ScholarPubMed

Onuchic, L. F., Furu, L., Nagasawa, Y., et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet. 2002;70:1305–17.Google Scholar

Zhang, J., Wu, M., Wang, S., Shah, J. V., Wilson, P. D., Zhou, J.. Polycystic kidney disease protein fibrocystin localizes to the mitotic spindle and regulates spindle bipolarity. Hum Mol Genet. 2010;19:3306–19.Google Scholar

Menezes, L. F., Cai, Y., Nagasawa, Y., et al. Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm. Kidney Int. 2004;66:1345–55.Google Scholar

Wang, S., Luo, Y., Wilson, P. D., Zhou, G. B. J.. The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area. J Am Soc Nephrol. 2004;15:592–602.CrossRefGoogle ScholarPubMed

Burgmaier, K., Kilian, S., Bammens, B., et al. Clinical courses and complications of young adults with autosomal recessive polycystic kidney disease (ARPKD). Sci Rep. 2019;9:7919.CrossRefGoogle ScholarPubMed

Zerres, K., Hansmann, M., Mallmann, R., Gembruch, U.. Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis. Prenat Diagn. 1988;8:215–29.CrossRefGoogle ScholarPubMed

Gimpel, C., Avni, E. F., Breysem, L., et al. Imaging of kidney cysts and cystic kidney diseases in children: An International Working Group Consensus Statement. Radiology. 2019;290:769–82.CrossRefGoogle ScholarPubMed

Liebau, M. C., Serra, A. L.. Looking at the (w)hole: Magnet resonance imaging in polycystic kidney disease. Pediatr Nephrol. 2013;28:1771–83.Google Scholar

Bergmann, C., Senderek, J., Windelen, E., et al. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int. 2005;67:829–48.Google Scholar

Rosenbaum, D. M., Korngold, E., Teele, R. L.. Sonographic assessment of renal length in normal children. Am J Roentgenol. 1984;142:467–9.CrossRefGoogle ScholarPubMed

Au, K. S., Williams, A. T., Roach, E. S., et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med. 2007; 9: 88–100.CrossRefGoogle ScholarPubMed

Siroky, B. J., Yin, H., Bissler, J. J.. Clinical and molecular insights into tuberous sclerosis complex renal disease. Pediatr Nephrol. 2011; 26: 839–52.Google Scholar

Kozlowski, P., Roberts, P., Dabora, S., et al. Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet. 2007; 121: 389–400.Google Scholar

Dabora, S. L., Jozwiak, S., Franz, D. N., et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet. 2001; 68: 64–80.Google Scholar

Bisceglia, M., Galliani, C., Carosi, I., et al. Tuberous sclerosis complex with polycystic kidney disease of the adult type: The TSC2/ADPKD1 contiguous gene syndrome. Int J Surg Pathol. 2008; 16: 375–85.Google Scholar

Crino, P. B., Nathanson, K. L., Henske, E. P.. The tuberous sclerosis complex. N Engl J Med. 2006; 355: 1345–56.Google Scholar

Ebrahimi-Fakhari, D., Mann, L. L., Poryo, M., et al. Incidence of tuberous sclerosis and age at first diagnosis: New data and emerging trends from a national, prospective surveillance study. Orphanet J Rare Dis. 2018; 13: 117.CrossRefGoogle ScholarPubMed

Yates, J. R., Maclean, C., Higgins, J. N., et al. The Tuberous Sclerosis 2000 Study: Presentation, initial assessments and implications for diagnosis and management. Arch Dis Child. 2011; 96: 1020–5.Google Scholar

Peron, A., Northrup, H.. Tuberous sclerosis complex. Am J Med Genet C Semin Med Genet. 2018; 178: 274–7.CrossRefGoogle ScholarPubMed

Marom, D.. Genetics of tuberous sclerosis complex: An update. Childs Nerv Syst. 2020; 36: 2489–96.Google Scholar

Peron, A., Canevini, M. P., Ghelma, F., et al. Healthcare transition from childhood to adulthood in tuberous sclerosis complex. Am J Med Genet C Semin Med Genet. 2018; 178: 355–64.Google Scholar

Northrup, H., Krueger, D. A.. Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol. 2013; 49: 243–54.Google Scholar

Mettin, R. R., Merkenschlager, A., Bernhard, M. K., et al. Wide spectrum of clinical manifestations in children with tuberous sclerosis complex--follow-up of 20 children. Brain Dev. 2014; 36: 306–14.Google Scholar

Wilbur, C., Sanguansermsri, C., Chable, H., et al. Manifestations of tuberous sclerosis complex: The experience of a provincial clinic. Can J Neurol Sci. 2017; 44: 35–43.CrossRefGoogle ScholarPubMed

Warncke, J. C., Brodie, K. E., Grantham, E. C., et al. Pediatric renal angiomyolipomas in tuberous sclerosis complex. J Urol. 2017; 197: 500–6.Google Scholar

Kingswood, J. C., Belousova, E., Benedik, M. P., et al. Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. Nephrol Dial Transplant. 2019; 34: 502–8.Google Scholar

Bissler, J. J., Christopher Kingswood, J.. Renal manifestation of tuberous sclerosis complex. Am J Med Genet C Semin Med Genet. 2018; 178: 338–47.Google Scholar

Bissler, J. J., Kingswood, J. C.. Renal angiomyolipomata. Kidney Int. 2004; 66: 924–34.CrossRefGoogle ScholarPubMed

Guo, J., Tretiakova, M. S., Troxell, M. L., et al. Tuberous sclerosis-associated renal cell carcinoma: A clinicopathologic study of 57 separate carcinomas in 18 patients. Am J Surg Pathol. 2014; 38: 1457–67.Google Scholar

Janssens, P., Van Hoeve, K., De Waele, L., et al. Renal progression factors in young patients with tuberous sclerosis complex: A retrospective cohort study. Pediatr Nephrol. 2018; 33: 2085–93.Google Scholar

Kingswood, J. C., Nasuti, P., Patel, K., et al. The economic burden of tuberous sclerosis complex in UK patients with renal manifestations: A retrospective cohort study in the clinical practice research datalink (CPRD). J Med Econ. 2016; 19: 1116–26.Google Scholar

Amin, S., Lux, A., Calder, N., et al. Causes of mortality in individuals with tuberous sclerosis complex. Dev Med Child Neurol. 2017; 59: 612–17.Google Scholar

Morin, C. E., Morin, N. P., Franz, D. N., et al. Thoracoabdominal imaging of tuberous sclerosis. Pediatr Radiol. 2018; 48: 1307–23.CrossRefGoogle ScholarPubMed

Kozłowska, J., Okoń, K.. Renal tumors in postmortem material. Pol J Pathol. 2008; 59: 21–5.Google ScholarPubMed

Krueger, D. A., Northrup, H.. Tuberous sclerosis complex surveillance and management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013; 49: 255–65.CrossRefGoogle ScholarPubMed

Boils, C., et al. Tuberous sclerosis: The spectrum of metanephric defects, cystic kidney diseases and neoplasms in 26 pediatric and adult cases. Kidney/Renal Pathol Mod Pathol. 2014; 27: 405–16.Google Scholar

Bonsib, S. M., Boils, C., Gokden, N., et al. Tuberous sclerosis complex: Hamartin and tuberin expression in renal cysts and its discordant expression in renal neoplasms. Pathol Res Pract. 2016; 212: 972–9.Google Scholar

Bernstein, J., Robbins, T. O., Kissane, J. M.. The renal lesions of tuberous sclerosis. Semin Diagn Pathol. 1986; 3: 97–105.Google Scholar

Bernstein, J., Robbins, T. O.. Renal involvement in tuberous sclerosis. Ann N Y Acad Sci. 1991; 615: 36–49.Google Scholar

Martignoni, G., Bonetti, F., Pea, M., et al. Renal disease in adults with TSC2/PKD1 contiguous gene syndrome. Am J Surg Pathol. 2002; 26: 198–205.Google Scholar

Bernstein, J.. Renal cystic disease in the tuberous sclerosis complex. Pediatr Nephrol. 1993; 7: 490–5.CrossRefGoogle ScholarPubMed

Fine, S. W., Reuter, V. E., Epstein, J. I., et al. Angiomyolipoma with epithelial cysts (AMLEC): A distinct cystic variant of angiomyolipoma. Am J Surg Pathol. 2006; 30: 593-9.Google Scholar

Trpkov, K., Hes, O., Bonert, M., et al. Eosinophilic, solid, and cystic renal cell carcinoma: Clinicopathologic study of 16 unique, sporadic neoplasms occurring in women. Am J Surg Pathol. 2016; 40: 60–71.Google Scholar

Schreiner, A., Daneshmand, S., Bayne, A., et al. Distinctive morphology of renal cell carcinomas in tuberous sclerosis. Int J Surg Pathol. 2010; 18: 409–18.Google Scholar

Lam, H. C., Siroky, B. J., Henske, E. P.. Renal disease in tuberous sclerosis complex: Pathogenesis and therapy. Nat Rev Nephrol. 2018; 14: 704–16.Google Scholar

Roach, E. S.. Applying the lessons of tuberous sclerosis: The 2015 Hower Award Lecture. Pediatr Neurol. 2016; 63: 6–22.CrossRefGoogle ScholarPubMed

Halpenny, D., Snow, A., McNeill, G., et al. The radiological diagnosis and treatment of renal angiomyolipoma-current status. Clin Radiol. 2010; 65: 99–108.Google Scholar

Franz, D. N., Krueger, D. A.. mTOR inhibitor therapy as a disease modifying therapy for tuberous sclerosis complex. Am J Med Genet C Semin Med Genet. 2018; 178: 365–73.Google Scholar

Lennerz, J. K., Spence, D. C., Iskandar, S. S., Dehner, L. P., Liapis, H.. Glomerulocystic kidney: One hundred-year perspective. Arch Pathol Lab Med. 201;134:583–605.Google Scholar

Cramer, M. T., Guay-Woodford, L. M.. Cystic kidney disease: A primer. Adv Chronic Kidney Dis. 2015;22:297–305.Google Scholar

Liapis, H., Winyard, P.. Cystic diseases of the kidney and developmental defects. In Jennette, J. C., D’Agati, V. D., Olson, J. L., Silva, F. G., eds. Heptinstall’s Pathology of the Kidney. Chapter 4, 7th ed. Wolters Kluwer.Google Scholar

Rizzoni, G., Loirat, C., Levy, M., Milanesi, C., Zachello, G., Mathieu, H.. Familial hypoplastic glomerulocystic kidney. A new entity? Clin Nephrol. 1982;18:263–68.Google Scholar

Kaplan, B. S., Gordon, I., Pincott, J., Barratt, T. M.. Familial hypoplastic glomerulocystic kidney disease: A definite entity with dominant inheritance. Am J Med Genet. 1989;34:569–73.Google Scholar

Bolar, N. A., Golzio, C., Živná, M., Hayot, G., et al. Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia. Am J Hum Genet. 2016;99:174–87.Google Scholar

Rito, M., Cabrera, R. A.. Glomerulocystic kidney presenting as a unilateral kidney mass in a newborn with tuberous sclerosis: Report of a case and review of the literature. Pathol Res Pract. 2017;213:286–91.Google Scholar

Gusmano, R., Caridi, G., Marini, M., Perfumo, F., et al. Glomerulocystic kidney disease in a family. Nephrol Dial Transplant. 2002;17:813–8.Google Scholar

Zaman, R., Maggi, A., Rajpoot, S. K., Joshi, D. D.. Glomerulocystic kidney disease and hepatoblastoma in an infant: A rare presentation. Case Rep Nephrol Dial. 2015;5:200–3.Google Scholar

Duval, H., Michel-Calemard, L., Gonzales, M., Loget, P., et al. Fetal anomalies associated with HNF1B mutations: Report of 20 autopsy cases. Prenat Diagn. 2016;36:744–51.Google Scholar

Landau, D., Shalev, H., Shulman, H., Barki, Y., Maor, E., Zmora, E.. Oligohydramnion, renal failure and no pulmonary hypoplasia in glomerulocystic kidney disease. Pediatr Nephrol. 2000;14:319–21.Google Scholar

Wolf, M. T., Hoskins, B. E., Beck, B. B., Hoppe, B., et al. Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). Pediatr Nephrol. 2009;24:55–60.Google Scholar

Rampoldi, L., Caridi, G., Santon, D., Boaretto, F., et al. Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. Hum Mol Genet. 2003;12:3369–384.Google Scholar

Bernstein, J.. Glomerulocystic kidney disease--nosological considerations. Pediatr Nephrol. 1993;7:464–70.Google Scholar

Fiorentino, A., Christophorou, A., Massa, F., Garbay, S., et al. Developmental renal glomerular defects at the origin of glomerulocystic disease. Cell Rep. 2020;33:108304.CrossRefGoogle ScholarPubMed

Georgas, K., Rumballe, B., Valerius, M. T., Chiu, H. S., et al. Analysis of early nephron patterning reveals a role for distal RV proliferation in fusion to the ureteric tip via a cap mesenchyme-derived connecting segment. Dev Biol. 2009;332:273–86.Google Scholar

Liu, J. S., Ishikawa, I., Saito, Y., Nakazawa, T., Tomosugi, N., Ishikawa, Y.. Digital glomerular reconstruction in a patient with a sporadic adult form of glomerulocystic kidney disease. Am J Kidney Dis. 2000;35:216–20.Google Scholar

Anık, A., Çatlı, G., Abacı, A., Böber, E.. Maturity-onset diabetes of the young (MODY): An update. J Pediatr Endocrinol Metab. 2015;28:251–63.Google Scholar

Johnson, S. R., Ellis, J. J., Leo, P. J., Anderson, L. K., et al. Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort. Pediatr Diabetes. 2019;20:57–64.Google Scholar

McDonald, T. J., Colclough, K., Brown, R., Shields, B., et al. Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabet Med. 2011;28:1028–33.Google Scholar

Álvarez-Satta, M., Castro-Sánchez, S., Valverde, D.. Bardet-Biedl syndrome as a chaperonopathy: Dissecting the major role of chaperonin-like BBS proteins (BBS6-BBS10-BBS12). Front Mol Biosci. 2017;4:55–62.Google Scholar

Tsang, S. H., Sharma, T.. Autosomal dominant retinitis pigmentosa. Adv Exp Med Biol. 2018;1085:69–77.CrossRefGoogle ScholarPubMed

Shifera, A. S., Kay, C. N.. Early-onset X-linked retinitis pigmentosa in a heterozygous female harboring an intronic donor splice site mutation in the retinitis pigmentosa GTPase regulator gene. Ophthalmic Genet. 2015;36:251–6.Google Scholar

Guay-Woodford, L. M., Galliani, C. A., Musulman-Mroczek, E., Spear, G.S., Guillot, A.P., Bernstein, J.. Diffuse renal cystic disease in children: Morphologic and genetic correlations. Pediatr Nephrol. 1998;12:173–82.Google Scholar

Gimpel, C., Avni, E. F., Breysem, L., Burgmaier, K., et al. Imaging of kidney cysts and cystic kidney diseases in children: An International Working Group Consensus Statement. Radiology. 2019;290:769–82.CrossRefGoogle ScholarPubMed

Fitch, S. J., Stapleton, F. B.. Ultrasonographic features of glomerulocystic disease in infancy: Similarity to infantile polycystic kidney disease. Pediatr Radiol. 1986;16:400–2.Google Scholar

Spence, D. C., Dehner, L. P., Lennerz, J., Liapis, H.. PAX-2 and Tamm-Horsfall immunohistochemistry facilitate the diagnosis of glomerular cysts in bilateral cystic kidneys. Mod Pathol. 2008;21:294a–295a.Google Scholar

Fahim, A.. Retinitis pigmentosa: Recent advances and future directions in diagnosis and management. Curr Opin Pediatr. 2018;30:725–33.Google Scholar

Rubin, J. D., Barry, M. A.. Improving molecular therapy in the kidney. Mol Diagn Ther. 2020;24:375–96.Google Scholar

Braun, D. A., Hildebrandt, F.. Ciliopathies. Cold Spring Harb Perspect Biol. 2017;9.Google Scholar

Wolf, M. T.. Nephronophthisis and related syndromes. Curr Opin Pediatr. 2015;27:201–11.Google Scholar

McConnachie, D. J., Stow, J. L., Mallett, A. J.. Ciliopathies and the kidney: A review. Am J Kidney Dis. 2021;77:410–19.CrossRefGoogle ScholarPubMed

Konig, J., Kranz, B., Konig, S., et al. Phenotypic spectrum of children with nephronophthisis and related ciliopathies. Clin J Am Soc Nephrol. 2017;12:1974–83.Google Scholar

Eckardt, K. U., Alper, S. L., Antignac, C., et al. Autosomal dominant tubulointerstitial kidney disease: Diagnosis, classification, and management--A KDIGO consensus report. Kidney Int. 2015;88:676–83.Google Scholar

Devuyst, O., Olinger, E., Weber, S., et al. Autosomal dominant tubulointerstitial kidney disease. Nat Rev Dis Primers. 2019;5:60.Google Scholar

Ayasreh Fierro, N., Miquel Rodriguez, R., Matamala Gaston, A., et al. A review on autosomal dominant tubulointerstitial kidney disease. Nefrologia. 2017;37:235–43.Google Scholar

Bleyer, A. J., Kidd, K., Živná, M., Kmoch, S.. Autosomal dominant tubulointerstitial kidney disease. Adv Chronic Kidney Dis. 2017;24:86–93.Google Scholar

Gast, C., Marinaki, A., Arenas-Hernandez, M., et al. Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. BMC Nephrol. 2018;19:301.Google Scholar

Johnson, B. G., Dang, L. T., Marsh, G., et al. Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis. J Clin Invest. 2017;127:3954–69.Google Scholar

Kidd, K., Vylet’al, P., Schaeffer, C., et al. Genetic and clinical predictors of age of ESKD in individuals with autosomal dominant tubulointerstitial kidney disease due to UMOD mutations. Kidney Int Rep. 2020;5:1472–85.Google Scholar

Al-Bataineh, M. M., Sutton, T. A., Hughey, R. P.. Novel roles for mucin 1 in the kidney. Curr Opin Nephrol Hypertens. 2017;26:384–91.Google Scholar

Yamamoto, S., Kaimori, J. Y., Yoshimura, T., et al. Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein. Nephrol Dial Transplant. 2017;32:2010–7.Google Scholar

Yu, S. M., Bleyer, A. J., Anis, K., et al. Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutation. Am J Kidney Dis. 2018;71:495–500.Google Scholar

Knaup, K. X., Hackenbeck, T., Popp, B., et al. Biallelic expression of mucin-1 in autosomal dominant tubulointerstitial kidney disease: Implications for nongenetic disease recognition. J Am Soc Nephrol. 2018;29:2298–309.Google Scholar

Zivna, M., Kidd, K., Pristoupilova, A., et al. Noninvasive immunohistochemical diagnosis and novel MUC1 mutations causing autosomal dominant tubulointerstitial kidney disease. J Am Soc Nephrol. 2018;29:2418–31.CrossRefGoogle ScholarPubMed

Živná, M., Kidd, K., Zaidan, M., et al. An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes. Kidney Int. 2020;98:1589–604.Google Scholar

Schaeffer, C., Olinger, E.. Clinical and genetic spectra of kidney disease caused by REN mutations. Kidney Int. 2020;98:1397–400.Google Scholar

Desgrange, A., Heliot, C., Skovorodkin, I., et al. HNF1B controls epithelial organization and cell polarity during ureteric bud branching and collecting duct morphogenesis. Development. 2017;144:4704–19.Google Scholar

Gimpel, C., Avni, E. F., Breysem, L., et al. Imaging of kidney cysts and cystic kidney diseases in children: An International Working Group Consensus Statement. Radiology. 2019;290:769–82.Google Scholar

Izzi, C., Dordoni, C., Econimo, L., et al. Variable expressivity of HNF1B nephropathy, from renal cysts and diabetes to medullary sponge kidney through tubulo-interstitial kidney disease. Kidney Int Rep. 2020;5:2341–50.Google Scholar

Clissold, R. L., Hamilton, A. J., Hattersley, A. T., Ellard, S., Bingham, C.. HNF1B-associated renal and extra-renal disease – An expanding clinical spectrum. Nat Rev Nephrol. 2015;11:102–12.Google Scholar

Kołbuc, M., Leßmeier, L., Salamon-Słowińska, D., et al. Hypomagnesemia is underestimated in children with HNF1B mutations. Pediatr Nephrol. 2020;35:1877–86.Google Scholar

Bolar, N. A., Golzio, C., Zivna, M., et al. Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia. Am J Hum Genet. 2016;99:174–87.Google Scholar

Espino-Hernandez, M., Palma Milla, C., Vara-Martin, J., Gonzalez-Granado, L. I.. De novo SEC61A1 mutation in autosomal dominant tubulo-interstitial kidney disease: Phenotype expansion and review of literature. J Paediatr Child Health. 2021;57:1305–7.Google Scholar

Reindl, J., Gröne, H.J., Wolf, G., Busch, M.. Uromodulin-related autosomal-dominant tubulointerstitial kidney disease-pathogenetic insights based on a case. Clin Kidney J. 2019;12:172–9.Google Scholar

Vnučák, M., Graňák, K., Skálová, P., et al. Living-related kidney transplantation in a patient with juvenile nephronophthisis. Nephron. 2020;144:583–8.Google Scholar

Živná, M., Kidd, K., Zaidan, M., et al. An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes. Kidney Int. 2020;98:1589–604.Google Scholar

Cormican, S., Kennedy, C., Connaughton, D. M., et al. Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease. Clin Transplant. 2020;34:e13783.Google Scholar

Knotek, M., Novak, R., Jaklin-Kekez, A., Mrzljak, A.. Combined liver-kidney transplantation for rare diseases. World J Hepatol. 2020;12:722–37.Google Scholar

Dvela-Levitt, M., Shaw, J. L., Greka, A.. A rare kidney disease to cure them all? Towards mechanism-based therapies for proteinopathies. Trends Mol Med. 2021;27:393–409.Google Scholar

Bleyer, A. J., Wolf, M. T., Kidd, K. O., et al. Autosomal dominant tubulointerstitial kidney disease: More than just HNF1β. Pediatr Nephrol. 2022;37:933–46.Google Scholar