Cystinosis (Q40013): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
A cistinose é uma doença metabólica caracterizada pelo acúmulo de cistina dentro dos lisossomas de diferentes tecidos devido a um defeito no transporte da cistina para fora dos lisossomos. Existem três formas clínicas: infantil, juvenil e ocular. A forma infantil é a doença multissistêmica grave, com diminuição da capacidade de reabsorção do túbulo proximal que leva a alterações graves do equilíbrio hidroeletrolítico, depósito de cistina em vários órgãos e progressão para insuficiência renal após os 6 anos de idade. A cistinose juvenil surge por volta dos 8 anos de idade e tem um quadro clínico intermediário com doença renal em estágio terminal ocorrendo após os 15 anos de idade. A forma adulta ocular apresenta fotofobia. | |||
| description / en | description / en | ||
Cystinosis is a metabolic disease characterised by an accumulation of cystine inside the lysosomes of different tissues due to a defect in cystine transport out of lysosomes. There are three clinical forms : infantile, juvenile and ocular. The infantile form is severe, multisystem disease, with impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, cystine deposits in various organs and progression towards renal failure after 6 years of age. Juvenile cystinosis appear around 8 years of age and has an intermediate clinical picture with end-stage renal disease occurring after the age of 15.The ocular, adult form presents with photophobia. | |||
Revision as of 05:39, 13 August 2026
Cystinosis is a metabolic disease characterised by an accumulation of cystine inside the lysosomes of different tissues due to a defect in cystine transport out of lysosomes. There are three clinical forms : infantile, juvenile and ocular. The infantile form is severe, multisystem disease, with impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, cystine deposits in various organs and progression towards renal failure after 6 years of age. Juvenile cystinosis appear around 8 years of age and has an intermediate clinical picture with end-stage renal disease occurring after the age of 15.The ocular, adult form presents with photophobia.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C60.1 |
||
| English | Cystinosis |
Cystinosis is a metabolic disease characterised by an accumulation of cystine inside the lysosomes of different tissues due to a defect in cystine transport out of lysosomes. There are three clinical forms : infantile, juvenile and ocular. The infantile form is severe, multisystem disease, with impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, cystine deposits in various organs and progression towards renal failure after 6 years of age. Juvenile cystinosis appear around 8 years of age and has an intermediate clinical picture with end-stage renal disease occurring after the age of 15.The ocular, adult form presents with photophobia. |
