Improving the recognition of hereditary interstitial kidney disease.
Autosomal dominant tubulointerstitial kidney disease is characterized by the poorly recognized inheritance of slowly progressive renal failure leading to ESRD in later life. Patients with this condition have bland urinary sediment, and renal ultrasound typically reveals normal to small kidneys, with occasional individuals having small medullary cysts. Diagnosis relies on the clinical acumen of the nephrologist. Obtaining a thorough family history and records of affected family members is especially helpful. Kidney biopsy is frequently unhelpful, whereas genetic linkage studies or mutations in the UMOD gene may identify the problem.
Bleyer
Anthony J
AJ
Section on Nephrology, Wake Forest University School of Medicine, Medical Center Boulevard Winston Salem, NC 27157, USA. ableyer@wfubmc.edu
D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis / Q000235:genetics*; D052177:Kidney Diseases, Cystic / Q000235:genetics; D007676:Kidney Failure, Chronic / Q000235:genetics; D009088:Mucoproteins / Q000235:genetics; D009395:Nephritis, Interstitial / Q000235:genetics; D058949:Uromodulin
D009088:Mucoproteins; C548612:UMOD protein, human; D058949:Uromodulin