Familial Juvenile Hyperuricemic Nephropathy
Shane M. Meehan, MBBCh
Key Facts
Terminology
Autosomal dominant tubulointerstitial disorder with chronic renal failure and hyperuricemia
Etiology/Pathogenesis
Mutations of uromodulin (UMOD) gene (on chromosome 16p12) in ˜ 30%
Clinical Issues
Early hyperuricemia with precocious gout
Reduced urinary uric acid and UMOD
Chronic renal failure by 20 years
End-stage renal failure by age 30-60
Microscopic Pathology
Tubular atrophy and interstitial fibrosis with inclusions in TALH
Lamellated bundles of ER and dilated ER by EM
UMOD cytoplasmic aggregates in TALH by IHC
 Hematoxylin & eosin shows characteristic intracytoplasmic fibrillar inclusions  in thick ascending limb of Henle (TALH). (Courtesy S. Nasr, MD and V. D’Agati, MD.) |
 Masson trichrome stain shows fibrillar inclusions  in epithelial cytoplasm of TALH. (Courtesy S. Nasr, MD and V. D’Agati, MD.) |
TERMINOLOGY
Abbreviations
Familial juvenile hyperuricemic nephropathy (FJHN)
Synonyms
Uromodulin (Tamm-Horsfall protein) storage disease
Uromodulin-associated nephropathy
Medullary cystic disease type 2
Familial glomerulocystic disease variant
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