Niemann-Pick disease (Q52672): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||||||||||||||
| (3 intermediate revisions by the same user not shown) | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_398872780 | |||||||||||||||
| Property / Canary Token: dki-india-ID_398872780 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
13 August 2026
| |||||||||||||||
| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 23:58, 13 August 2026
Niemann-Pick disease is an autosomal recessive lysosomal storage disorder caused by the deficient activity of acid sphingomyelinase, encompassing two clinically distinct forms: type A and type B. Type A is characterised by an early onset, within the first year of life, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms (psychomotor retardation, hypotonia). The severe neurological disorders and pulmonary infections lead to an early death, often around the age of 4. In type B ), onset occurs at any age (until adulthood) and the most constant sign is hepatosplenomegaly, which can be associated with pulmonary symptoms.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_398872780 |
||
| English | Niemann-Pick disease |
Niemann-Pick disease is an autosomal recessive lysosomal storage disorder caused by the deficient activity of acid sphingomyelinase, encompassing two clinically distinct forms: type A and type B. Type A is characterised by an early onset, within the first year of life, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms (psychomotor retardation, hypotonia). The severe neurological disorders and pulmonary infections lead to an early death, often around the age of 4. In type B ), onset occurs at any age (until adulthood) and the most constant sign is hepatosplenomegaly, which can be associated with pulmonary symptoms. |
Statements
CID11:ID_398872780
0 references
dki-india-ID_398872780
0 references
Concluído
0 references
13 August 2026
0 references
