Autosomal dominant tubulointerstitial disease (Q46416): Difference between revisions
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Doenças renais não glomerulares, autossômicas dominantes, caracterizadas por fibrose túbulo-intersticial progressiva e progressão para doença renal em estágio terminal. Atualmente, existem 4 defeitos genéticos conhecidos - na uromodulina, mucina-1, renina e fator nuclear 1-beta dos hepatócitos. O último está associado ao Diabetes de Início da Maturidade dos Jovens (MODY) e, portanto, é classificado como MODY-5. | |||
| description / en | description / en | ||
Nonglomerular, autosomal dominant kidney diseases characterised by progressive tubulointerstitial fibrosis and progression to end-stage renal disease. Currently there are 4 known genetic defects - in uromodulin, mucin-1, renin and hepatocyte nuclear factor 1-beta. The last is associated with Maturity-Onset Diabetes of the Young (MODY) and thus is classified as MODY-5 | |||
Revision as of 14:58, 13 August 2026
Nonglomerular, autosomal dominant kidney diseases characterised by progressive tubulointerstitial fibrosis and progression to end-stage renal disease. Currently there are 4 known genetic defects - in uromodulin, mucin-1, renin and hepatocyte nuclear factor 1-beta. The last is associated with Maturity-Onset Diabetes of the Young (MODY) and thus is classified as MODY-5
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | GB82 |
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| English | Autosomal dominant tubulointerstitial disease |
Nonglomerular, autosomal dominant kidney diseases characterised by progressive tubulointerstitial fibrosis and progression to end-stage renal disease. Currently there are 4 known genetic defects - in uromodulin, mucin-1, renin and hepatocyte nuclear factor 1-beta. The last is associated with Maturity-Onset Diabetes of the Young (MODY) and thus is classified as MODY-5 |
