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Renal failure in adult patients with hereditary tyrosinaemia type I.

Abstract：

:An adult patient with hereditary tyrosinaemia type I who developed renal failure is reported. She received a renal transplant at the age of 23 years. In childhood her kidney disease was dominated by multiple tubular defects with resulting hypophosphataemic rickets. Metabolic acidosis was the most prominent feature in the years preceding the transplantation. Her kidneys were contracted to 40 g. The major morphological finding was that of a tubulointerstitial nephropathy. Liver biopsies taken at the ages of 5.5 and 23 years showed cirrhotic changes. Crystalloid inclusions in the liver mitochondriae were a prominent finding on electron microscopy. Fumarylacetoacetase was deficient in liver, kidneys, fibroblasts and lymphocytes. The typical biochemical parameters of tyrosinaemia, succinylacetone, p-hydroxyphenyllactate, p-hydroxyphenylpyruvate and serum tyrosine were only slightly elevated. A brief history of a second adult tyrosinaemia patient with decreasing renal function is also given.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Kvittingen EA,Talseth T,Halvorsen S,Jakobs C,Hovig T,Flatmark A

doi

10.1007/BF01804389

subject

Has Abstract

pub_date

1991-01-01 00:00:00

pages

53-62

issue

1

eissn

0141-8955

issn

1573-2665

journal_volume

14

pub_type

杂志文章

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