RESUMO
A 17-year-old male patient with Bartter's syndrome was admitted for renal function studies. This patient had persistent hypokalemia, first found at age 5; the diagnosis of Bartter's syndrome with renal hypersecretion of prostaglandins E2 and F2 alpha had been established at age 13. A congenital defect of chloride reabsorption was expected, but after 4 years of indomethacin treatment no such defect was found. Withdrawal of indomethacin for 1 week resulted in profound hypokalemia and the appearance of a chloride reabsorption defect, with an excessive urinary PGE2 and PGF2 alpha excretion, and a parallel decrease in plasma prostaglandin precursors. The cause of Bartter's syndrome in this patient seems to be renal hyperprostaglandinism.
Assuntos
Síndrome de Bartter/metabolismo , Hiperaldosteronismo/metabolismo , Indometacina/uso terapêutico , Adolescente , Síndrome de Bartter/tratamento farmacológico , Eletrólitos/sangue , Ácidos Graxos/sangue , Hormônios/sangue , Humanos , Rim/metabolismo , Testes de Função Renal , Masculino , Prostaglandinas/sangue , Prostaglandinas/metabolismoAssuntos
Aberrações Cromossômicas , Aberrações Cromossômicas/diagnóstico , Transtornos Cromossômicos , Cromossomos Humanos 13-15 , Cromossomos em Anel , Anormalidades Múltiplas/diagnóstico , Encéfalo/diagnóstico por imagem , Pré-Escolar , Aberrações Cromossômicas/complicações , Epilepsia/complicações , Assimetria Facial/complicações , Feminino , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/complicações , Masculino , Crânio/anormalidades , Tomografia Computadorizada por Raios XRESUMO
Observation of a patient with r(14) mosaicism together along with 18 previously published observations define the syndrome as follows: mental deficiency, seizures, microcephaly (usually), and facial dysmorphism showing a narrow, elongated face, short palpebral fissures, a flat nasal bridge, and retrognathia. A retinal dystrophia which may be specific of the syndrome consists of a hyperpigmentation and, in three patients, yellow-white spots of the macula. The brain shows mild dilation of the lateral ventricles.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas/genética , Cromossomos Humanos 13-15 , Mosaicismo , Pré-Escolar , Transtornos Cromossômicos , Epilepsia/genética , Face/anormalidades , Feminino , Humanos , Cariotipagem , Microcefalia/genética , Fenótipo , Transtornos da Pigmentação/genética , Doenças Retinianas/genética , Síndrome , Tomografia Computadorizada por Raios XRESUMO
The authors report the case of an infant presenting with a syndrome associating dwarfism, microcephaly, facial dysmorphy and important skeletal abnormalities consisting of radiologic changes concerning the skull, long bones, vertebrae, pelvis, ribs, metacarpus and metatarsus. Severe cerebral atrophy and neurologic involvement were responsible for death in the first year of life. This rare syndrome is likely to have an autosomal recessive transmission.
