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Updated: Jun 14, 2026
04:31
Whole-Kidney Three-Dimensional Staining with CUBIC
Published on: July 18, 2022
Glomerulocystic kidney: one hundred-year perspective.
Jochen K Lennerz1, David C Spence, Samy S Iskandar
1Department of Pathology and Immunology, Washington University, St Louis, Missouri 63110, USA.
Archives of Pathology & Laboratory Medicine
|April 7, 2010
Summary
Glomerulocystic kidney (GCK) is linked to polycystic kidney disease (PKD) but often involves different genes. Specific mutations in Uromodulin and TCF2 cause familial GCK subtypes, aiding diagnosis.
Area of Science:
- Nephrology
- Molecular Genetics
- Medical Research
Background:
- Glomerular cysts, dilated Bowman spaces, characterize various kidney disorders.
- Glomerulocystic kidney (GCK) involves >5% cystic glomeruli, affecting young and adult populations.
- GCK shares features with polycystic kidney disease (PKD) but has diverse etiologies.
Observation:
- Reviewed 20 GCK cases and over 230 literature cases.
- Investigated molecular genetics, revisited literature, and performed in silico experiments.
- Analyzed overlapping genetic entities and established molecular-genetic functions.
Findings:
- GCK is partly a variant of PKD, but PKD gene mutations are excluded in many GCK cases.
- Uromodulin mutations cause a familial GCK subtype with cystic kidneys, hyperuricemia, and isosthenuria.
- TCF2 (HNF1-beta) mutations cause familial hypoplastic GCK associated with diabetes.
Implications:
- GCK disease (GCKD) classification should be reserved for molecularly defined subtypes.
- A proposed model of glomerulocystogenesis integrates genetic findings.
- Developed a classification scheme emphasizing clinical significance, differential diagnosis, and mutation screening for GCK.
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