Late-onset primary hyperoxaluria triggered by hypothyroidism and presenting as rapidly progressive renal failure--description of a new mutation.
Primary hyperoxaluria type 1 (PH1) is a rare autosomal metabolic recessive disease, caused by the deficiency of the liver peroxysomal alanine:glyoxylate aminotransferase (AGT), characterized by accumulation of calcium oxalate crystals in kidneys and others organs. We present the case of an elderly woman with PH1, presenting as acute renal failure. Precipitation of calcium oxalate crystals was probably due to amiodarone-induced severe hypothyroidism. Residual AGT activity is associated with the G170R (G630A) mutation. A new mutation of AGT, called R36C, was also discovered; the role of this new mutation is actually not known.
Tintillier
M
M
Department of Nephrology, Cliniques Universitaires de Mont-Godinne, Yvoir, Belgium. m.tintillier@ibelgique.com
Pochet
J-M
JM
Cosyns
J-P
JP
Delgrange
E
E
Donckier
J
J
D000367:Age Factors; D000368:Aged; D018450:Disease Progression; D005260:Female; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000209:etiology* / Q000235:genetics; D007037:Hypothyroidism / Q000150:complications*; D009154:Mutation; D051437:Renal Insufficiency / Q000209:etiology*; D013997:Time Factors