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17 results

Pediatric Nephropathology & Childhood Kidney Tumors
  • Edited by Helen Liapis
  • Published online:
    10 August 2023
    Print publication:
    09 March 2023
  • The presentation of kidney diseases can vary widely between children and adults as can age-related differential diagnoses and the consequences of treatment. This comprehensive and practical guide to pediatric nephropathology covers a range of conditions and diseases, including abnormal kidney development, glomerular diseases, vascular diseases and transplant pathology. Special emphasis is placed on integrating mechanisms of disease to pathology and therapeutic options. The book also includes ancillary testing such as genetics, as these are fast becoming the gold standard for a number of paediatric kidney diseases. Over a hundred high-quality colour images are included, fully annotated to display the key features of the diseases discussed. Summaries of key points and knowledge gaps condense vital information for an accessible read by busy clinicians and trainees. An online version of the book with expandable figures can be accessed on Cambridge Core, via the code printed on the inside of the cover.

  • Chapter 15 - Glomerulocystic Kidney (GCK) and GCK Disease (GCKD)

  • from Section 6 - Cystic Diseases
  • Edited by Helen Liapis, Ludwig Maximilian University, Nephrology Center, Munich, Adjunct Professor and Washington University St Louis, Department of Pathology and Immunology, Retired Professor
  • Book:
    Pediatric Nephropathology & Childhood Kidney Tumors
    Published online:
    10 August 2023
    Print publication:
    09 March 2023, pp 283-289

  • Summary

    GCK and GCKD are terms used for kidney phenotypes characterized by glomerular cysts, defined as ≥2–3× dilatation of the Bowman’s space involving >5% of glomeruli in a given kidney section. GCK is a phenotype found in known hereditary cystic kidney diseases such as ADPKD, ARPKD and tuberous sclerosis, as well as numerous syndromes with multiple organ anomalies including renal dysplasia. Isolated GCK has also been described. Those cases with a specific genetic mutation/s are referred to as GCKD; included are subcategories within the nephronophthisis (ADTKD-UROM) spectrum and other ciliopathies such as heterozygous loss-of-function of SEC61A1 gene, also an autosomal dominant disease. The term GCKD is reserved for those cases presenting with GCK that do not fit in the already accepted classifications such as autosomal dominant tubulointerstitial diseases (ADTKD) (see Chapter 16). The pathogenesis of glomerular cysts remains speculative and includes developmental (glomerular patterning) gene defects and obstruction of the junction between the proximal tubule and the developing glomerulus. However, obstruction at this junction has yet to be proven in humans. The prognosis for kidney function is not good but kidney transplantation is reported with good results. Gene therapy/stem cell approaches are under investigation for premature macula densa degeneration which is included in a subset of GCK-related disorders (Bardet–Biedl syndrome/retinitis pigmentosa).

  • Chapter 4 - Haematuric Glomerular Diseases (Collagenopathies)

  • from Section 2 - Glomerular Diseases
  • Edited by Helen Liapis, Ludwig Maximilian University, Nephrology Center, Munich, Adjunct Professor and Washington University St Louis, Department of Pathology and Immunology, Retired Professor
  • Book:
    Pediatric Nephropathology & Childhood Kidney Tumors
    Published online:
    10 August 2023
    Print publication:
    09 March 2023, pp 56-86

  • Summary

    This chapter will present clinical and histopathologic findings, pathophysiology and molecular genetics of glomerular basement membrane (GBM) diseases presenting primarily with hematuria. The GBM is a complex structure mainly composed of collagen IV in its mature form, but also other components such as nidogen, agrin and perlecan. Diseases of collagen IV disorders include Alport syndrome and thin basement membrane disease, Pierson syndrome, caused by mutations in the LAMB2 gene, nail–patella syndrome caused by LMX1B mutations with collagen type III accumulation that requires unmasking, and type III collagenopathy characterised by increased type III collagen in the GBM and the glomerular mesangium. Current and future therapies will also be discussed