BACKGROUND Recessive mutations in the NPHS1 gene encoding nephrin account for approximately 40% of infants with congenital nephrotic syndrome (CNS). CNS is defined as steroid-resistant nephrotic syndrome (SRNS) within the first 90 days of life. Currently, more than 119 different mutations of NPHS1 have been published affecting most exons. METHODS We here performed mutational analysis of NPHS1...

Glomerular disease is a common cause for proteinuria and chronic kidney disease leading to end-stage renal disease requiring dialysis or kidney transplantation in children. Nephrotic syndrome in children is diagnosed by the presence of a triad of proteinuria, hypoalbuminemia, and edema. Minimal change disease is the most common histopathological finding in children and adolescents with nephroti...

BACKGROUND Venous thrombosis is common in nephrotic syndrome, but portal vein thrombosis has a relatively low incidence in patients with nephrotic syndrome. We describe here a case of an 18-year old male student with newly diagnosed nephrotic syndrome that was complicated with portal, splenic and superior mesenteric vein thrombosis. CONCLUSION In the presence of newly diagnosed nephrotic synd...

BACKGROUND Klippel-Trenaunay-Weber syndrome is a rare syndrome; unfortunately, very few studies of the connection between hypersplenism, nephrotic syndrome, and Klippel-Trenaunay-Weber syndrome have been published. CASE PRESENTATION We report the case of a 40-year-old white man with a typical clinical presentation of Klippel-Trenaunay-Weber syndrome, including "port-wine stains," varicose vei...

Hospital Physician October 2007 25 T he nephrotic syndrome is a constellation of renal and extrarenal manifestations that can be caused by a multitude of systemic diseases as well as by primary insults to the kidney. The prevalence of the syndrome depends largely on the underlying causes, which vary significantly by age of onset. The nephrotic syndrome is classically characterized by 6 main abn...

A 43-year-old man presented with a 2-week history of foamy urine, progressive oedema of his lower limbs, ascites and a 28-lb weight gain. He denied any trauma or surgery in the past. On physical examination, profound pitting oedema (4+) in the extremities and tautness of the abdominal wall with flattening of the umbilicus and positive shifting dullness was noted. Sono-guided paracentesis for sy...

Human nephrotic syndrome has been related to mutations in glomerular proteins. Mutations in the NPHS2 gene that encodes podocin have been described as responsible for steroid-resistant nephrotic syndrome. It has been advised to test for NPHS2 mutations in parallel or before giving steroid treatment in nephrotic syndrome patients in order to avoid unnecessary therapy. We identified NPHS2 mutatio...

It has been shown that children with nephrotic syndrome due to minimal change disease (MCD) can present with avid salt retention and stimulated vasoactive hormones, as well as with stable edema. The present study examines these conditions in children with nephrotic syndrome not due to MCD (non-MCD). In six children with hypovolemic symptoms (congenital nephrotic syndrome in four), strong sodium...

Herlitz junctional epidermolysis bullosa (H-JEB) is a hereditary bullous disease caused by absent expression of laminin-5, a component of anchoring filaments within the dermal-epidermal basement membrane zone. Affected individuals usually die during the first 1 year of life. We studied an infant with H-JEB who presented with nephrotic syndrome, a previously unreported complication that may cont...

Hyperlipidemia is a common feature of the nephrotic syndrome. Hyperlipidemia so commonly complicates with heavy proteinuria that it has come to be regarded as an integral features of nephrotic syndrome lipid abnormalities in patients with the nephrotic syndrome have been recognized. 2 Lipoprotein abnormalities of the nephrotic syndrome are assumed to be related to the presence of proteinuria an...