A clinical case of late diagnosis of a chronic type I tyrosinemia
Tyrosinemia type 1 is a genetic disease mainly of the first months and years of life caused by a violation of normal tyrosine catabolism with the formation of final toxic metabolites that have a direct damaging effect on the liver and kidneys with the development of a characteristic clinical picture...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ZAO "Consilium Medicum"
2025-01-01
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| Series: | Consilium Medicum |
| Subjects: | |
| Online Access: | https://consilium.orscience.ru/2075-1753/article/viewFile/643258/203544 |
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| Summary: | Tyrosinemia type 1 is a genetic disease mainly of the first months and years of life caused by a violation of normal tyrosine catabolism with the formation of final toxic metabolites that have a direct damaging effect on the liver and kidneys with the development of a characteristic clinical picture, represented mainly by functional and morphological disorders on a part of the liver that forms a cirrhosis clinic with a high probability of the latter's degeneration into hepatocellular carcinoma. In the article below, we present a clinical case of the first described late onset of a chronic variant of tyrosinemia type 1 with leading manifestations by type of renal dysfunction with the development of de Toni–Debre–Fanconi syndrome, followed by the formation of phosphopenic osteomalacia and the late appearance of diagnostic criteria corresponding to the initial stage of cirrhosis of the liver. |
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| ISSN: | 2075-1753 2542-2170 |