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-1beta. 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.

journal_name

Arch Pathol Lab Med

authors

Lennerz JK,Spence DC,Iskandar SS,Dehner LP,Liapis H

doi

10.1043/1543-2165-134.4.583

subject

Has Abstract

pub_date

2010-04-01 00:00:00

pages

583-605

issue

4

eissn

0003-9985

issn

1543-2165

pii

10.1043/1543-2165-134.4.583

journal_volume

134

pub_type

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