Niemann-Pick disease (Q52672): Difference between revisions
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A doença de Niemann-Pick é um distúrbio de armazenamento lisossomal autossômico recessivo causado pela atividade deficiente da esfingomielinase ácida, abrangendo duas formas clinicamente distintas: tipo A e tipo B. O tipo A é caracterizado por um início precoce, no primeiro ano de vida, distúrbios digestivos, atraso de crescimento, hepatoesplenomegalia grave e sintomas neurológicos graves (retardo psicomotor, hipotonia). Os transtornos neurológicos graves e as infecções pulmonares levam à morte precoce, geralmente por volta dos 4 anos de idade. No tipo B, o início ocorre em qualquer idade (até a idade adulta) e o sinal mais constante é a hepatoesplenomegalia, que pode estar associada a sintomas pulmonares. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
