medullary cystic kidney disease
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Etiology
- genetic
Pathology
- shrunken kidneys
- cystic changes in the renal medulla, distal tubules & collecting ducts
- impaired urine concentrating capacity
- salt wasting
- interstitial pathology resulting in fibrosis
- progressive renal failure
- retinal degeneration may occur in the homozygous form
Genetics
- autosomal dominant (generally)
- type 2 associated with defects in uromodulin (UMOD)
- defects in REN, MUC1[1]
Clinical manifestations
- autosomal dominant form presents in young adults (> 20 years of age)
- homozygous form presents in children (< 20 years of age)
- polyuria
- hyperuricemia & gout
- progressive renal failure
- clinical features vary in presence & severity
Laboratory
- renal function tests: progressive renal failure
- urinalysis: bland urine sediment
- serum uric acid: hyperuricemia
Complications
Differential diagnosis
- type 2 is considered an allelic variant of: familial juvenile hyperuricemic nephropathy
- glomerulocystic kidney disease
More general terms
Additional terms
References
- ↑ 1.0 1.1 Medical Knowledge Self Assessment Program (MKSAP) 11, 16, 17, 18. American College of Physicians, Philadelphia 1998, 2012, 2015, 2018.
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1324
- ↑ OMIM https://mirror.omim.org/entry/603860