Cystinosis (Q40013): Difference between revisions

@@ 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.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/733715856
@@ Property / Canonical URI: https://id.who.int/icd/entity/733715856 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:5C60.1
@@ Property / CURIE: CID11:5C60.1 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-5C60.1
@@ Property / Canary Token: dki-india-5C60.1 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank
@@ Property / Linked ICD 10 @@
+E72.0
@@ Property / Linked ICD 10: E72.0 / rank @@
+Normal rank

Latest 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.