Autosomal dominant Fanconi syndrome with early renal failure
| Autor: | Aaron L. Friedman, Carl W. Trygstad, Russell W. Chesney, John M. Opitz |
|---|---|
| Rok vydání: | 1978 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Time Factors Adolescent urologic and male genital diseases End stage renal disease Autosomal recessive trait hemic and lymphatic diseases Internal medicine medicine Humans Amino Acids Child Genetics (clinical) Genes Dominant Generalized aminoaciduria business.industry nutritional and metabolic diseases Fanconi syndrome Fanconi Syndrome medicine.disease Uremia Pedigree Transplantation Endocrinology Child Preschool Aminoaciduria Renal glycosuria Kidney Failure Chronic Female business Follow-Up Studies |
| Zdroj: | American Journal of Medical Genetics. 2:225-232 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320020303 |
| Popis: | The "idiopathic" Fanconi syndrome occurs mostly sporadically, occasionally as an autosomal recessive trait. However, few instances of autosomal dominant inheritance have been reported. We described a father and son with the Fanconi syndrome, ie, with renal glycosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and bone disease. No other causes of the Fanconi syndrome were found. Both father and son developed end stage renal disease. Aminoaciduria in excess of that seen in renal insufficiency is shown by comparison with published data for amino acid excretion in uremia. Renal transplantation in the father has improved kidney function with no evidence of Fanconi syndrome. This family is unique in that there are no other reports of autosomal dominant Fanconi syndrome with progression to early renal failure. |
| Databáze: | OpenAIRE |
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