Congenital nephrotic syndrome in an infant with ALG1 -congenital disorder of glycosylation
نویسندگان
چکیده
منابع مشابه
Congenital Nephrotic Syndrome: A Cases Report
Congenital nephrotic syndrome (CNS) can be caused by neonatal infections and renal diseases that usually occur in early infancy. The most common CNS is the Finnish type, which is an autosomal recessively inherited disease characterized by intrauterine onset of massive proteinuria. In this study, we presented a preterm neonate confirmed as the first case of CNS in Iran by genetic study, who was ...
متن کاملCongenital disorders of glycosylation: a rare cause of nephrotic syndrome.
Congenital disorders of glycosylation (CDG) are inborn errors of metabolism presenting with multi-system organ involvement due to defective glycosylation of glycoproteins. We report here a case of microcephaly, hypotonia, seizure disorder and severe developmental delay since infancy in whom screening for CDG with transferring isoelectric focussing (TIEF) revealed a type I pattern. Following inv...
متن کاملDefining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
Deficiency of β-1,4 mannosyltransferase (MT-1) congenital disorder of glycosylation (CDG), due to ALG1 gene mutations. Features in 9 patients reported previously consisted of prenatal growth retardation, pregnancy-induced maternal hypertension and fetal hydrops. Four patients died before 5 years of age, and survivors showed a severe psychomotor retardation. We report on 7 patients with psychomo...
متن کاملEvaluation of an Infant with Cholestasis and Congenital Hypopituitarism
We are reporting an infant with persistent abnormal liver function, neonatal jaundice, and intermittent hypoglycemia. Evaluation confirmed congenital hypopituitarism, in the absence of congenital anomalies and midline defect. His jaundice and abnormal liver function improved after treatment with Levothyroxine and hydrocortisone.
متن کاملCongenital nephrotic syndrome
CNS (Congenital nephrotic syndrome) is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary) and secondary forms (acquired and associated with other syndromes). The most common form is the Finnish CNS (CNF, congenital nephrotic syndr...
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ژورنال
عنوان ژورنال: Pediatrics International
سال: 2016
ISSN: 1328-8067
DOI: 10.1111/ped.12988