title: Hyperreninemia, lysozymuria, and erythrocytosis in Fanconi syndrome with medullary cystic kidney.
abstract: Adult onset Fanconi syndrome with medullary cystic kidney was diagnosed in a 30-year-old male with muscular weakness, hypokalemia, normal BP, hyperreninemia, and secondary aldosteronism. He also had non-specific aminoaciduria, lysozymuria, and beta 2-microglobulinuria. Urinary concentrating and acidifying capacity was impaired, and both sodium and potassium were lost into the urine. I.v. pyelography revealed medullary cystic kidney. Renal biopsy showed juxtaglomerular hyperplasia, heavy subintimal deposits and C3 and IgG in preglomerular arteriolar walls, and degenerative changes in the tubules, including loss of brush border and "macula densa-like" lesions. Polycythemia with elevated serum erythropoietin levels, and raised blood ACTH values with features of cortisolism were also present. Indomethacin therapy decreased plasma renin activity (PRA), plasma aldosterone, and urinary loss of potassium and sodium, while serum potassium approached normal levels. Metoprolol, a beta-adrenergic blocking agent, caused similar effects. Insensitivity to the pressor effect of angiotensin II was reversed by indomethacin treatment. Somatostatin infusion lowered PRA and aldosterone without affecting BP. Several biochemical aberrations of this patient resemble Bartter's syndrome, including the effect of indomethacin.
mesh_terms: D000328:Adult; D001477:Bartter Syndrome / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D004573:Electrolytes / Q000032:analysis; D005198:Fanconi Syndrome / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D006929:Hyperaldosteronism / Q000150:complications*; D052177:Kidney Diseases, Cystic / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D007677:Kidney Function Tests; D007678:Kidney Glomerulus / Q000473:pathology; D007684:Kidney Tubules / Q000473:pathology; D008297:Male; D009113:Muramidase / Q000652:urine*; D011086:Polycythemia / Q000150:complications*; D012083:Renin / Q000097:blood
chemical_list: D004573:Electrolytes; D009113:Muramidase; D012083:Renin