RESUMO
Cabezas syndrome (MIM 300354) is a recently identified syndromic form of X-linked mental retardation (XLMR) caused by mutations in the CUL4B gene. In total, nine XLMR families carrying mutations in the CUL4B gene have been described to date. Here, we present a detailed clinical phenotype of three affected brothers of Polish descent. Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A-->T, p.703K-->X) in exon 18 of the CUL4B gene. The mutation was inherited from an asymptomatic mother and was present in all three affected brothers. The patients presented with typical features of Cabezas syndrome, such as severe mental retardation, speech impairment, hyperactivity, seizures, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism. In addition to previously described symptoms, syndactyly of the second and third toes and skin manifestations (hyperhydrosis and keratosis pilaris) were present in our cases. Our report provides further support that Cabezas syndrome is a recognizable syndromic form of XLMR. We conclude that the CUL4B gene should be screened in males with severe speech impairment and primary intention tremor, especially if characteristic facial dysmorphism is also present.
Assuntos
Códon sem Sentido , Proteínas Culina/genética , Deficiência Intelectual Ligada ao Cromossomo X/genética , Proteínas Culina/química , Feminino , Humanos , Masculino , LinhagemAssuntos
Infecções por Bactérias Gram-Positivas/diagnóstico , Nefrite/diagnóstico , Nefrite/microbiologia , Propionibacterium acnes/isolamento & purificação , Adulto , Diagnóstico Diferencial , Infecções por Bactérias Gram-Positivas/complicações , Infecções por Bactérias Gram-Positivas/patologia , Humanos , Masculino , Nefrite/patologia , PrognósticoAssuntos
Pelve Renal/diagnóstico por imagem , Pelve Renal/cirurgia , Cálculos Ureterais/complicações , Obstrução Ureteral/diagnóstico por imagem , Obstrução Ureteral/cirurgia , Adolescente , Humanos , Masculino , Nefrostomia Percutânea , Radiografia , Tomógrafos Computadorizados , Resultado do Tratamento , Obstrução Ureteral/etiologiaAssuntos
Diabetes Mellitus Tipo 2/tratamento farmacológico , Edema/induzido quimicamente , Insuficiência Cardíaca/induzido quimicamente , Hipoglicemiantes/efeitos adversos , Tiazolidinedionas/efeitos adversos , Idoso , Volume Sanguíneo/efeitos dos fármacos , Edema/fisiopatologia , Feminino , Insuficiência Cardíaca/fisiopatologia , Humanos , Rim/fisiologia , RosiglitazonaRESUMO
Acute renal failure (ARF) in hospitalized patients remains associated with significant morbidity and mortality. Most reports have detailed the in-hospital outcomes in ARF patients. This commentary focuses on the outcomes (including quality of life) of ARF patients, both adults and children, after discharge from the hospital.