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medullary cystic kidney disease

Etiology: - genetic Pathology: 1) shrunken kidneys 2) cystic changes in the renal medulla, distal tubules & collecting ducts 3) impaired urine concentrating capacity 4) salt wasting 5) interstitial pathology resulting in fibrosis 6) progressive renal failure 7) 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: 1) autosomal dominant form presents in young adults (> 20 years of age) 2) homozygous form presents in children (< 20 years of age) 3) polyuria 4) hyperuricemia & gout 5) progressive renal failure 6) clinical features vary in presence & severity Laboratory: - renal function tests: progressive renal failure - urinalysis: bland urine sediment - serum uric acid: hyperuricemia Complications: - end-stage renal disease Differential diagnosis: - type 2 is considered an allelic variant of: familial juvenile hyperuricemic nephropathy - glomerulocystic kidney disease

Interactions

disease interactions

Related

medullary sponge kidney disease

General

genetic disease of the kidney polycystic kidney disease

Database Correlations

OMIM 603860

References

  1. Medical Knowledge Self Assessment Program (MKSAP) 11, 16, 17, 18. American College of Physicians, Philadelphia 1998, 2012, 2015, 2018.
  2. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1324
  3. OMIM :accession 603860