Familial occurrence of hyperuricemia, gout, and medullary cystic disease.
We observed hyperuricemia, acute gouty arthritis, and renal medullary cystic disease in three members of a family over two generations. Two of these individuals were women who developed gout by age 20 years. Two teenage sons of one of these patients had severe hyperuricemia, which appeared due to underexcretion of uric acid. To our knowledge the occurrence of hyperuricemia, gout, and renal medullary cystic disease has not been reported previously.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001581:Benzothiadiazines; D004232:Diuretics; D005260:Female; D006073:Gout / Q000150:complications / Q000235:genetics*; D006801:Humans; D007679:Kidney Medulla; D007684:Kidney Tubules / Q000378:metabolism; D008297:Male; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000150:complications / Q000235:genetics*; D049993:Sodium Chloride Symporter Inhibitors / Q000009:adverse effects; D014527:Uric Acid / Q000097:blood* / Q000378:metabolism / Q000652:urine
D001581:Benzothiadiazines; D004232:Diuretics; D049993:Sodium Chloride Symporter Inhibitors; D014527:Uric Acid