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1.
Chinese Journal of Pathology ; (12): 1255-1260, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1012402

RESUMO

Objective: To investigate the clinical pathology and gene mutation characteristics of patients with glycogen storage disease type Ⅳ (GSD Ⅳ). Methods: The clinical data, liver histopathology and ultrastructural morphology, and gene sequencing results of 5 GSD Ⅳ cases diagnosed in the Children's Hospital Affiliated to Shanghai Jiaotong University School of Medicine and the Children's Hospital of Fudan University from January 2015 to February 2022 were collected and analyzed retrospectively. Results: Among the 5 cases, 3 were male and 2 were female, ranging in age from 4 months to 1 year and 9 months. The clinical manifestations included fever, hepatosplenomegaly, liver insufficiency, growth retardation and hypotonia. Four cases had liver biopsy showing ground-glass-like changes in hepatocytes with intracytoplasmic inclusion bodies and varying degrees of fibrosis. Liver electron microscopy in 2 cases showed that the level of glycogen increased to varying degrees, and the cytoplasm was filled with low electron density substances. Genetic testing revealed that 3 cases had compound heterozygous variants in GBE1 gene; 1 case had a single pathogenic variant in GBE1 gene; and 1 case was deceased with no genetic testing, but each parent was tested for a heterozygous variant in the GBE1 gene. A total of 9 GBE1 gene mutations were detected, 3 of which were reported mutations and 6 novel mutations. One case died of liver cirrhosis, and 1 case underwent autologous liver transplantation. After transplantation, the liver function basically returned to normal, and the growth and development improved; the other 3 cases were managed through diet control and symptomatic treatment. Conclusions: CSD Ⅳ is an extremely rare inherited metabolic disease caused by GBE1 gene mutation, often presenting with hepatic and neuromuscular disorders, with heterogeneous clinical manifestations. The diagnosis mainly depends on histopathology and a pedigree gene analysis.


Assuntos
Lactente , Criança , Humanos , Masculino , Feminino , Doença de Depósito de Glicogênio Tipo IV/patologia , Estudos Retrospectivos , China , Mutação , Testes Genéticos/métodos
2.
Pediatric Gastroenterology, Hepatology & Nutrition ; : 365-368, 2018.
Artigo em Inglês | WPRIM | ID: wpr-717796

RESUMO

Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV is associated with mutations in GBE1, which encodes the glycogen branching enzyme. We report a case of GSD IV with rare homozygous mutations in the GBE1 gene (c.791G>A (p.Gly264Glu), which was successfully treated by liver transplantation.


Assuntos
Enzima Ramificadora de 1,4-alfa-Glucana , Codificação Clínica , Doença de Depósito de Glicogênio Tipo IV , Doença de Depósito de Glicogênio , Glicogênio , Hepatopatias , Transplante de Fígado
3.
Gut and Liver ; : 60-63, 2009.
Artigo em Inglês | WPRIM | ID: wpr-76628

RESUMO

Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues. We treated a 20-month-old girl who presented with progressive liver cirrhosis and was diagnosed with GSD-IV, as confirmed by GBE1 gene mutation analysis, and underwent living related heterozygous donor liver transplantation. Direct sequencing of the GBE1 gene revealed that the patient was compound heterozygous for a known c.1571G>A (p.Gly264Glu) mutation a novel c.791G> A (Arg524Gln) mutation. This is the first report of a Korean patient with GSD-IV confirmed by mutation analysis, who was treated successfully by liver transplantation.


Assuntos
Criança , Humanos , Lactente , Enzima Ramificadora de 1,4-alfa-Glucana , Glicogênio , Doença de Depósito de Glicogênio , Doença de Depósito de Glicogênio Tipo IV , Fígado , Cirrose Hepática , Transplante de Fígado , Doadores Vivos , Doadores de Tecidos
6.
Arq. bras. med ; 67(2): 91-4, mar.-abr. 1993. ilus
Artigo em Português | LILACS | ID: lil-123616

RESUMO

Alteraçöes histopatológicas do fígado em material de biópsia de duas crianças de sete meses a três anos foram descritas e comparadas com as previamente relatadas na literatura. O diagnóstico foi feito com base nas manifestaçöes clínicas, achados de microscopia óptica e, em um dos casos, nos achados ultra-estruturais


Assuntos
Humanos , Masculino , Lactente , Pré-Escolar , Enzima Ramificadora de 1,4-alfa-Glucana/metabolismo , Doença de Depósito de Glicogênio Tipo IV/etiologia , Fígado/patologia , Doença de Depósito de Glicogênio Tipo IV/complicações , Doença de Depósito de Glicogênio Tipo IV/diagnóstico
7.
Artigo em Inglês | IMSEAR | ID: sea-41262

RESUMO

Glycogen storage disease type IV is rare. The disease is characterized by widespread storage of a polysaccharide similar to amylopectin. An autopsy case of a 6-year-old Thai boy with cirrhosis and deposits in the liver, heart, muscle and central nervous system was described along with histochemical and electron microscopic findings.


Assuntos
Criança , Doença de Depósito de Glicogênio/patologia , Doença de Depósito de Glicogênio Tipo IV/patologia , Humanos , Fígado/patologia , Masculino , Microscopia Eletrônica , Músculos/patologia , Miocárdio/patologia , Tailândia
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