Congenital Nephrotic Syndrome - Finish Type
نویسندگان
چکیده
منابع مشابه
Congenital Nephrotic Syndrome – Finish Type
INTRODUCTION Identification of the NPHS1 gene, which encodes nephrin, was followed by many studies demonstrating its mutation as a frequent cause of congenital nephrotic syndrome (CNS). While this gene is found in 98% of Finnish children with this syndrome, non-Finnish cases have lower level of incidence ranging from 39 to 80%. CASE REPORT This report describes the clinical presentation of a ...
متن کاملCongenital nephrotic syndrome, Finnish type
Keywords Disease name and synonyms Definition Incidence Clinical description Histology Treatment Etiology Antenatal diagnosis References Abstract The congenital nephrotic syndrome of the Finnish type is a hereditary disease with autosomal recessive inheritance. The gene frequency is approximately 1/200 in Finland. The disease is caused by mutations in the gene for nephrin, which is a key compon...
متن کاملCongenital 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 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...
متن کاملPathophysiology of Congenital Nephrotic Syndrome of the Finnish type
9 Review of the literature 11 1. Congenital nephrotic syndrome of the Finnish type (CNF, NPHS1) 11
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Medical Archives
سال: 2016
ISSN: 0350-199X
DOI: 10.5455/medarh.2016.70.232-234