Lesch-Nyhan syndrome (Q40106): Difference between revisions
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A síndrome de Lesch-Nyhan (LNS) é a forma mais grave de deficiência de hipoxantina-guanina fosforibosiltransferase (HPRT), um distúrbio hereditário do metabolismo das purinas e está associada a um aumento da produção de ácido úrico (SAU), problemas neurológicos e problemas comportamentais. Os pacientes são normais ao nascer. O atraso psicomotor torna-se evidente dentro de 3 a 6 meses, com atraso no apoio da cabeça e na posição sentada, hipotonia e atetose (movimentos involuntários, lentos, contínuos e contorcidos.). Deposição de urina arenosa nas fraldas ou cristalúria com obstrução do trato urinário são formas comuns de apresentação. Os pacientes geralmente apresentam deficiência intelectual leve a moderada. Suspeita-se da doença quando ocorre atraso psicomotor em um paciente com AU elevada no sangue e na urina. A atividade indetectável da enzima HPRT no sangue periférico ou em células intactas (eritrócitos, fibroblastos) e os testes de genética molecular confirmam o diagnóstico. A herança é recessiva ligada ao X. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioural problems. Patients are normal at birth. Psychomotor delay becomes evident within 3 to 6 months with a delay in head support and sitting, hypotonia and athetoid movements. Sandy urine in diapers or crystalluria with urinary tract obstruction are common forms of presentation. Patients usually show mild to moderate intellectual deficit. Diagnosis is suspected when psychomotor delay occurs in a patient with elevated UA in blood and urine. Undetectable HPRT enzyme activity in peripheral blood or in intact cells (erythrocyte, fibroblast) and molecular genetic testing confirm the diagnosis. Inheritance is X-linked recessive. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1886495906 / rank | |||||||||||||||
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CID11:5C55.01 | |||||||||||||||
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dki-india-5C55.01 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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| Property / Linked ICD 10: E79.1 / rank | |||||||||||||||
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Latest revision as of 05:47, 13 August 2026
Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioural problems. Patients are normal at birth. Psychomotor delay becomes evident within 3 to 6 months with a delay in head support and sitting, hypotonia and athetoid movements. Sandy urine in diapers or crystalluria with urinary tract obstruction are common forms of presentation. Patients usually show mild to moderate intellectual deficit. Diagnosis is suspected when psychomotor delay occurs in a patient with elevated UA in blood and urine. Undetectable HPRT enzyme activity in peripheral blood or in intact cells (erythrocyte, fibroblast) and molecular genetic testing confirm the diagnosis. Inheritance is X-linked recessive.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C55.01 |
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| English | Lesch-Nyhan syndrome |
Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioural problems. Patients are normal at birth. Psychomotor delay becomes evident within 3 to 6 months with a delay in head support and sitting, hypotonia and athetoid movements. Sandy urine in diapers or crystalluria with urinary tract obstruction are common forms of presentation. Patients usually show mild to moderate intellectual deficit. Diagnosis is suspected when psychomotor delay occurs in a patient with elevated UA in blood and urine. Undetectable HPRT enzyme activity in peripheral blood or in intact cells (erythrocyte, fibroblast) and molecular genetic testing confirm the diagnosis. Inheritance is X-linked recessive. |
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CID11:5C55.01
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dki-india-5C55.01
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Concluído
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13 August 2026
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