Glomerulocystic Kidney: One Hundred–Year Perspective

Abstract

Context.—Glomerular cysts, defined as Bowman space dilatation greater than 2 to 3 times normal size, are found in disorders of diverse etiology and with a spectrum of clinical manifestations. The term glomerulocystic kidney (GCK) refers to a kidney with greater than 5% cystic glomeruli. Although usually a disease of the young, GCK also occurs in adults. Objective.—To assess the recent molecular genetics of GCK, review our files, revisit the literature, and perform in silico experiments. Data Sources.—We retrieved 20 cases from our files and identified more than 230 cases published in the literature under several designations. Conclusions.—Although GCK is at least in part a variant of autosomal dominant or recessive polycystic kidney disease (PKD), linkage analysis has excluded PKD-associated gene mutations in many cases of GCK. A subtype of familial GCK, presenting with cystic kidneys, hyperuricemia, and isosthenuria is due to uromodullin mutations. In addition, the familial hypoplastic variant of GCK that is associated with diabetes is caused by mutations in TCF2, the gene encoding hepatocyte nuclear factor–1β. The term GCK disease (GCKD) should be reserved for the latter molecularly recognized/inherited subtypes of GCK (not to include PKD). Review of our cases, the literature, and our in silico analysis of the overlapping genetic entities integrates established molecular-genetic functions into a proposed model of glomerulocystogenesis; a classification scheme emerged that (1) emphasizes the clinical significance of glomerular cysts, (2) provides a pertinent differential diagnosis, and (3) suggests screening for probable mutations.

Presentation of glomerulocystic disease in a young onset diabetes: A case report

“…[11] GCKD displays distinct clinical presentations categorized as early-onset (more common in neonates) and late-onset (more common in adults). [12] In early-onset GCKD, renal function remains stable for several years, with the potential to progress to end-stage renal disease within a span of 3 or more years. In contrast, late-onset GCKD tends to exhibit milder renal impairments.…”

Approach to Inherited Cystic Kidney Disease

“…Lennerz, glomerüllerin %5'inden fazlasında kist görülen ailesel olgularda glomerülokistik hastalık (GKH) tanımlamasının kullanılmasının uygun olduğunu belirtmiş ve buna göre bir sınıflandırma sistemi önermiştir (43 (43,44).…”