| Autor: |
Dirim, Ahmet Burak, Kalayci, Tugba, Safak, Seda, Garayeva Guller, Nurane, Oto, Ozgur Akin, Artan, Ayse Serra, Ozturk, Sukru, Yazici, Halil |
| Předmět: |
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| Zdroj: |
Nephrology; Jan2024, Vol. 29 Issue 1, p55-56, 2p |
| Abstrakt: |
This article discusses the case of a 42-year-old Caucasian woman who was diagnosed with a rare genetic disorder called transaldolase deficiency (TALDO-D). The patient presented with glycosuria, hypouricemia, mild kidney dysfunction, and a history of liver cirrhosis and atrial septal defect. The diagnosis was confirmed through genetic testing, which revealed a homozygous likely pathogenic variant in the TALDO1 gene. The patient was treated with N-acetylcysteine and sodium bicarbonate, and her liver and kidney function remained stable during the two-year follow-up. The article highlights the importance of considering TALDO-D in cases of multisystemic disorders with renal involvement. [Extracted from the article] |
| Databáze: |
Complementary Index |
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