title: Clinico-pathologic findings in medullary cystic kidney disease type 2.
abstract: Medullary cystic kidney disease type 2 is an uncommon autosomal dominant condition characterized by juvenile onset hyperuricemia, precocious gout and chronic renal failure progressing to end-stage renal disease in the 4th through 7th decades of life. A family suffering from this condition is described. The patient in the index case presented with renal insufficiency as a child. A renal biopsy revealed tubular atrophy, and immunohistochemical staining of the tissue for uromodulin (Tamm Horsfall protein) revealed dense deposits in renal tubular cells. Genetic testing revealed a single nucleotide mutation (c.899G>A) resulting in an exchange of a cysteine residue for tyrosine (C300Y). Medullary cystic kidney disease type 2 (also known as uromodulin-associated kidney disease) likely represents a form of endoplasmic reticulum storage disease, with deposition of the abnormal uromodulin protein in the endoplasmic reticulum, leading to tubular cell atrophy and death.
authors.affiliation: Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, NC, USA. ableyer@wfubmc.edu
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Bleyer
authors.forename: Thomas C
authors.initials: TC
authors.lastname: Hart
authors.forename: Mark C
authors.initials: MC
authors.lastname: Willingham
authors.forename: Samy S
authors.initials: SS
authors.lastname: Iskandar
authors.forename: Michael C
authors.initials: MC
authors.lastname: Gorry
authors.forename: Howard
authors.initials: H
authors.lastname: Trachtman
mesh_terms: D000225:Adenine; D002648:Child; D006147:Guanine; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D007668:Kidney / Q000378:metabolism* / Q000473:pathology*; D008297:Male; D009088:Mucoproteins / Q000235:genetics* / Q000378:metabolism*; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D020641:Polymorphism, Single Nucleotide; D013194:Staining and Labeling; D058949:Uromodulin
chemical_list: D009088:Mucoproteins; C548612:UMOD protein, human; D058949:Uromodulin; D006147:Guanine; D000225:Adenine