Estudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante

Abstract

Presentación de casos clínicos RESUMENLa displasia ectodérmica hipohidrótica (DEH) es una entidad infrecuente caracterizada por deficiencia en el desarrollo de estructuras derivadas del ectodermo y es causada por mutaciones en los genes EDA, EDAR o EDARADD, que pueden exhibir hallazgos clínicos similares, debido a una vía de señalización común. Las mutaciones en el gen EDA causan la DEH ligada al X, que es la forma más frecuente. Por su parte, las mutaciones en los genes EDAR y EDARADD causan la DEH con patrón de herencia autosómica dominante y recesiva. Los hallazgos clínicos más resaltantes son hipodoncia, hipotricosis e hipohidrosis, que pueden llevar a episodios de hipertermia. Se presentan los hallazgos clínicos en un niño con DEH con patrón de herencia autosómica dominante, cuyo análisis molecular demostró mutación heterocigótica c.1072C>TEstudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante ABSTRACTHypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed.

Liver involvement in urea cycle disorders: a review of the literature

“…In CTLN1, hepatomegaly seems to occur mostly during acute episodes (Faghfoury et al 2011). ALF has been reported in children and adults, including as the presenting feature, and is recurrent in a number of patients (Ito et al 2004;Salek et al 2010;de Groot et al 2010;Bindi and Eiroa 2017), pregnancy being a common trigger (Ito et al 2004;Salek et al 2010;Sinclair et al 2014). Liver function mostly improved with treatment of citrullinemia; however, one patient did not recover, and persistent liver failure led to death in a few months (Ito et al 2004).…”

Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, Argentina

“…Currently, the incidence of UCD in Latin America is not known. There are few publications describing patients of Argentina, and they lack accurate information on the incidence of these diseases [6][7][8][9]. However, according to the European guidelines for the diagnosis and treatment of urea cycle disorders, the incidence is estimated to be 1: 8,000-1: 44,000 live births [10].…”