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Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism.
Santiago de Sousa Azulay, Rossana; Magalhães, Marcelo; Tavares, Maria da Gloria; Dualibe, Roberta; Barbosa, Lívia; Sá Gaspar, Silvia; Faria, André M; Nascimento, Gilvan Cortês; Damianse, Sabrina Da Silva Pereira; Rocha, Viviane Chaves de Carvalho; Gomes, Marília B; Dos Santos Faria, Manuel.
Afiliação
  • Santiago de Sousa Azulay R; Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.
  • Magalhães M; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil.
  • Tavares MDG; Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.
  • Dualibe R; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil.
  • Barbosa L; Clinical Research Center of the University Hospital of the Federal University of Maranhão (CEPEC - HUUFMA), São Luís, Brazil.
  • Sá Gaspar S; Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.
  • Faria AM; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil.
  • Nascimento GC; Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.
  • Damianse SDSP; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil.
  • Rocha VCC; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil.
  • Gomes MB; Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil.
  • Dos Santos Faria M; Neuroendocrine Unit, Functional Neurosurgery Division, Psychiatry Institute, Hospital das Clínicas, University of São Paulo Medical School, São Paulo, Brazil.
Am J Case Rep ; 21: e923108, 2020 Apr 24.
Article em En | MEDLINE | ID: mdl-32327622
BACKGROUND Juvenile hemochromatosis is a rare genetic disease that leads to intense iron accumulation. The disease onset usually occurs before the third decade of life and causes severe dysfunction in various organs. The most classical clinical findings are hypogonadotropic hypogonadism, cardiomyopathy, liver fibrosis, glycemic changes, arthropathy and skin pigmentation. However, secondary hypothyroidism is not reported in these patients. Juvenile hemochromatosis has an autosomal recessive inheritance and might be type 2A or type 2B, due to mutation in either the hemojuvelin gene (HJV) or hepcidin antimicrobial peptide (HAMP) gene. CASE REPORT A 26-year-old female patient was admitted with a recent history of diabetic ketoacidosis. Three months after that admission, she presented with arthralgia, diffuse abdominal pain, adynamia, hair loss, darkening of the skin and amenorrhea. Severe iron overload was found and findings in the hepatic biopsy were compatible with hemochromatosis. An upper abdominal magnetic resonance imaging (MRI) showed iron deposition in the liver and pancreas and pituitary MRI exhibited accumulation on the anterior pituitary. After 16 months the patient presented with dyspnea and lower limb edema, and cardiac MRI indicated iron deposition in the myocardium. The patient was diagnosed with juvenile hemochromatosis presenting with hypogonadotropic hypogonadism, cardiomyopathy, insulin-dependent diabetes mellitus, and secondary hypothyroidism. A novel homozygous mutation, c.697delC, in the HJV gene was detected. CONCLUSIONS We describe for the first time a severe and atypical case of juvenile hemochromatosis type 2A presenting classical clinical features, as well as secondary hypothyroidism resulting from a novel mutation in the HJV gene.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Ligadas por GPI / Proteína da Hemocromatose / Hemocromatose Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Adult / Female / Humans Idioma: En Revista: Am J Case Rep Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Ligadas por GPI / Proteína da Hemocromatose / Hemocromatose Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Adult / Female / Humans Idioma: En Revista: Am J Case Rep Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos