Assuntos
Códon sem Sentido/metabolismo , Oxirredutases atuantes sobre Doadores de Grupo CH-CH/genética , RNA Mensageiro/metabolismo , Síndrome de Smith-Lemli-Opitz/genética , Adulto , Alelos , Células Cultivadas , Colesterol/metabolismo , Códon sem Sentido/genética , Análise Mutacional de DNA , Feminino , Genótipo , Humanos , Recém-Nascido , Masculino , Oxirredutases atuantes sobre Doadores de Grupo CH-CH/metabolismo , Fenótipo , Gravidez , Síndrome de Smith-Lemli-Opitz/sangue , Síndrome de Smith-Lemli-Opitz/diagnóstico , Síndrome de Smith-Lemli-Opitz/metabolismoRESUMO
We describe a male patient with a Y202H ornithine transcarbamylase deficiency gene mutation who had pancreatitis while taking a low-protein diet, citrulline, and sodium phenylbutyrate.
Assuntos
Doença da Deficiência de Ornitina Carbomoiltransferase/complicações , Doença da Deficiência de Ornitina Carbomoiltransferase/genética , Pancreatite/etiologia , Adolescente , Amilases/sangue , Doença Crônica , Citrulina/uso terapêutico , Terapia Combinada , Dieta com Restrição de Proteínas/efeitos adversos , Nutrição Enteral/efeitos adversos , Gastrostomia/efeitos adversos , Humanos , Lipase/sangue , Masculino , Mutação/genética , Doença da Deficiência de Ornitina Carbomoiltransferase/diagnóstico , Doença da Deficiência de Ornitina Carbomoiltransferase/terapia , Pancreatite/sangue , Pancreatite/enzimologia , Fenótipo , Fatores de RiscoRESUMO
A male patient with aphallia, anal stenosis, tetralogy of Fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (CNS) malformations was born after a pregnancy complicated by poorly controlled maternal diabetes. Aphallia is an extremely rare abnormality and can be part of the urorectal septum malformation sequence (URSMS). While aphallia has not been reported in infants of diabetic mothers, urogenital malformations are known to occur with increased frequency. Two female products of pregnancies complicated by diabetes presented with multiple malformations including anal atresia and recto-vaginal fistula consistent with the diagnosis of URSMS. The three patients share CNS, cardiac, and vertebral anomalies, abnormalities secondary to abnormal blastogenesis and characteristic of diabetic embryopathy. URSMS is also caused by abnormal blastogenesis. Therefore, this particular malformation should be viewed in the context of the multiple blastogenetic abnormalities in the cases reported here. The overlap of findings of URSMS in our cases with other abnormalities of blastogenesis, such as VATER association or sacral agenesis is not surprising, as these associations are known to lack clear diagnostic boundaries.