Deficiência de Lipase Ácida Lisossômica (LAL): análise enzimática em papel-filtro como ferramenta diagnóstica em paciente com diagnóstico prévio de doença de Niemann-Pick tipo C
INTRODUCTION: Lysosomal acid lipase deficiency (LAL-D) is a lysosomal storage disorder involved in cholesterol ester metabolism. It is a poorly understood genetic cause of cirrhosis, dyslipidemia and premature atherosclerotic disease in children and adults. As the manifestations of LAL-D may resembl...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Pediatria
2023-09-01
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| Series: | Residência Pediátrica |
| Subjects: | |
| Online Access: | https://residenciapediatrica.com.br/detalhes/1413/deficiencia%20de%20lipase%20acida%20lisossomica%20-lal--%20analise%20enzimatica%20em%20papel-filtro%20como%20ferramenta%20diagnostica%20em%20paciente%20com%20diagnostico%20previo%20de%20doenca%20de%20niemann-pick%20tipo%20c |
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| author | Marcella Borges Luissa Hikari Hayashi Araujo Bruno Lima Laura Vagnini Alberto Salles Guerino Pelicer Neto-Magalhães João Paulo Cristofolo João Paulo Freitas Pedro Ivo Aranas Jacqueline Harouche Rodrigues Fonseca Fernanda Seabra Souza Timm Charles Marques Lourenço |
| author_facet | Marcella Borges Luissa Hikari Hayashi Araujo Bruno Lima Laura Vagnini Alberto Salles Guerino Pelicer Neto-Magalhães João Paulo Cristofolo João Paulo Freitas Pedro Ivo Aranas Jacqueline Harouche Rodrigues Fonseca Fernanda Seabra Souza Timm Charles Marques Lourenço |
| author_sort | Marcella Borges |
| collection | DOAJ |
| description | INTRODUCTION: Lysosomal acid lipase deficiency (LAL-D) is a lysosomal storage disorder involved in cholesterol ester metabolism. It is a poorly understood genetic cause of cirrhosis, dyslipidemia and premature atherosclerotic disease in children and adults. As the manifestations of LAL-D may resemble those observed in other more common diseases, delayed diagnosis is not uncommon. Wolman disease is an early-onset LAL-D phenotype that is usually fatal in the first year of life, but the most common form of the disease may occur at all ages. Recently, enzyme replacement therapy (ERT) for LAL-D has become available.
CASE REPORT: A 12-year-old male patient was referred for hepatomegaly. Initially diagnosed as having Niemann-Pick type C disease (NPC), it did not present confirmatory mutations of this disease. Later, with enzymatic dosage of lysosomal acid lipase on filter paper, the diagnosis was redirected to LAL-D (with confirmation in enzymatic dosage in leukocytes and fibroblasts).
DISCUSSION: Although LAL-D is considered a rare and uncommon cause of liver disease, recent studies point to a higher prevalence of this disease. Early diagnosis is essential, since specific treatment for this disease is already available. About half of patients with LAL-D die before age 21 in the absence of adequate treatment. |
| first_indexed | 2024-03-09T14:35:00Z |
| format | Article |
| id | doaj.art-bcd188035acd44a1b0d5853664b7191a |
| institution | Directory Open Access Journal |
| issn | 2236-6814 |
| language | English |
| last_indexed | 2024-03-09T14:35:00Z |
| publishDate | 2023-09-01 |
| publisher | Sociedade Brasileira de Pediatria |
| record_format | Article |
| series | Residência Pediátrica |
| spelling | doaj.art-bcd188035acd44a1b0d5853664b7191a2023-11-27T14:45:30ZengSociedade Brasileira de PediatriaResidência Pediátrica2236-68142023-09-0113310.25060/residpediatr-2023.v13n3-631Deficiência de Lipase Ácida Lisossômica (LAL): análise enzimática em papel-filtro como ferramenta diagnóstica em paciente com diagnóstico prévio de doença de Niemann-Pick tipo CMarcella Borges0Luissa Hikari Hayashi Araujo1Bruno Lima2Laura Vagnini3Alberto Salles4Guerino Pelicer Neto-Magalhães5João Paulo Cristofolo6João Paulo Freitas7Pedro Ivo Aranas8Jacqueline Harouche Rodrigues Fonseca9Fernanda Seabra Souza Timm10Charles Marques Lourenço11Centro Universitário Estácio de Ribeirão Preto, Genética Clínica - Ribeirão Preto - São Paulo - BrasilCentro Universitário Estácio de Ribeirão Preto, Genética Clínica - Ribeirão Preto - São Paulo - BrasilCentro Universitário Estácio de Ribeirão Preto, Genética Clínica - Ribeirão Preto - São Paulo - BrasilCPDP - Centro Paulista de Diagnóstico, Pesquisa e Treinamento - Medicina Diagnóstica, Genética Clínica - Ribeirão Preto - São Paulo - BrasilCentro Universitário Estácio de Ribeirão Preto, Genética Clínica - Ribeirão Preto - São Paulo - BrasilCentro Universitário Estácio de Ribeirão Preto, Genética Clínica - Ribeirão Preto - São Paulo - BrasilCentro Universitário Estácio de Ribeirão Preto, Genética Clínica - Ribeirão Preto - São Paulo - BrasilCentro Universitário Estácio de Ribeirão Preto, Genética Clínica - Ribeirão Preto - São Paulo - BrasilCentro Universitário Estácio de Ribeirão Preto, Genética Clínica - Ribeirão Preto - São Paulo - BrasilLaboratório DLE, Bioquímica Genética - Rio de Janeiro - Rio de Janeiro - BrasilHospital de Clínicas de Porto Alegre, UFRGS, Bioquímica Genética - Porto Alegre - Rio Grande do Sul - BrasilCentro Universitário Estácio de Ribeirão Preto, Genética Clínica - Ribeirão Preto - São Paulo - Brasil; Faculdade Estadual de Medicina de São José do Rio Preto (FAMERP), Neurogenética - São José do Rio Preto - São Paulo - BrasilINTRODUCTION: Lysosomal acid lipase deficiency (LAL-D) is a lysosomal storage disorder involved in cholesterol ester metabolism. It is a poorly understood genetic cause of cirrhosis, dyslipidemia and premature atherosclerotic disease in children and adults. As the manifestations of LAL-D may resemble those observed in other more common diseases, delayed diagnosis is not uncommon. Wolman disease is an early-onset LAL-D phenotype that is usually fatal in the first year of life, but the most common form of the disease may occur at all ages. Recently, enzyme replacement therapy (ERT) for LAL-D has become available. CASE REPORT: A 12-year-old male patient was referred for hepatomegaly. Initially diagnosed as having Niemann-Pick type C disease (NPC), it did not present confirmatory mutations of this disease. Later, with enzymatic dosage of lysosomal acid lipase on filter paper, the diagnosis was redirected to LAL-D (with confirmation in enzymatic dosage in leukocytes and fibroblasts). DISCUSSION: Although LAL-D is considered a rare and uncommon cause of liver disease, recent studies point to a higher prevalence of this disease. Early diagnosis is essential, since specific treatment for this disease is already available. About half of patients with LAL-D die before age 21 in the absence of adequate treatment.https://residenciapediatrica.com.br/detalhes/1413/deficiencia%20de%20lipase%20acida%20lisossomica%20-lal--%20analise%20enzimatica%20em%20papel-filtro%20como%20ferramenta%20diagnostica%20em%20paciente%20com%20diagnostico%20previo%20de%20doenca%20de%20niemann-pick%20tipo%20cmetabolisminborn errorsfatty liverhepatomegalydiagnostic testsroutine |
| spellingShingle | Marcella Borges Luissa Hikari Hayashi Araujo Bruno Lima Laura Vagnini Alberto Salles Guerino Pelicer Neto-Magalhães João Paulo Cristofolo João Paulo Freitas Pedro Ivo Aranas Jacqueline Harouche Rodrigues Fonseca Fernanda Seabra Souza Timm Charles Marques Lourenço Deficiência de Lipase Ácida Lisossômica (LAL): análise enzimática em papel-filtro como ferramenta diagnóstica em paciente com diagnóstico prévio de doença de Niemann-Pick tipo C Residência Pediátrica metabolism inborn errors fatty liver hepatomegaly diagnostic tests routine |
| title | Deficiência de Lipase Ácida Lisossômica (LAL): análise enzimática em papel-filtro como ferramenta diagnóstica em paciente com diagnóstico prévio de doença de Niemann-Pick tipo C |
| title_full | Deficiência de Lipase Ácida Lisossômica (LAL): análise enzimática em papel-filtro como ferramenta diagnóstica em paciente com diagnóstico prévio de doença de Niemann-Pick tipo C |
| title_fullStr | Deficiência de Lipase Ácida Lisossômica (LAL): análise enzimática em papel-filtro como ferramenta diagnóstica em paciente com diagnóstico prévio de doença de Niemann-Pick tipo C |
| title_full_unstemmed | Deficiência de Lipase Ácida Lisossômica (LAL): análise enzimática em papel-filtro como ferramenta diagnóstica em paciente com diagnóstico prévio de doença de Niemann-Pick tipo C |
| title_short | Deficiência de Lipase Ácida Lisossômica (LAL): análise enzimática em papel-filtro como ferramenta diagnóstica em paciente com diagnóstico prévio de doença de Niemann-Pick tipo C |
| title_sort | deficiencia de lipase acida lisossomica lal analise enzimatica em papel filtro como ferramenta diagnostica em paciente com diagnostico previo de doenca de niemann pick tipo c |
| topic | metabolism inborn errors fatty liver hepatomegaly diagnostic tests routine |
| url | https://residenciapediatrica.com.br/detalhes/1413/deficiencia%20de%20lipase%20acida%20lisossomica%20-lal--%20analise%20enzimatica%20em%20papel-filtro%20como%20ferramenta%20diagnostica%20em%20paciente%20com%20diagnostico%20previo%20de%20doenca%20de%20niemann-pick%20tipo%20c |
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