Nephrotic syndrome (NS) is one of the most frequent syndromes characterized namely by heavy proteinuria. Majority of NS occurs as a sporadic form, the incidence of familial cases is from 3 to 5%. Seven genes have been recognized till present, which mutations are responsible for severe forms of NS: NPHS1, NPHS2, ACTN4, CD2AP and WT1, TRPC6, LAMB2. Proteins encoded by these genes (nephrin, podoci...

schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphy-seal dysplasia. mutations in swi/snf2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (smarcal1) gene are responsible for the disease. the present report describes, for the first tim...

Nephrotic syndrome is an unusual manifestation of IgA Nephropathy (IgAN). Some cases respond to steroid treatment. Here we describe a case-series of IgAN patients with steroid-responsive nephrotic syndrome. Twelve patients with IgAN with steroid-responsive nephrotic syndrome were evaluated and followed up. All patients presented with generalized edema. Renal insufficiency was found in two patie...

Background. First-line treatment for paediatric nephrotic syndrome, a chronic disease characterised by proteinuria, hypoalbuminaemia and oedema, is corticosteroid therapy. An association between African ethnicity steroid resistance has been reported, but published data from sub-Saharan Africa are limited lack consensus on the prevalence of steroid-resistant disease. Objective. We aimed to descr...

This review examines selected aspects of the treatment of the nephrotic syndrome in children. Particular attention has been paid to two groups of nephrotic children. First, children with steroid-responsive nephrotic syndrome are discussed. Recently, a series of controlled studies have provided important information regarding the optimal duration of steroid therapy. Initial episodes of the nephr...

A 10 year old boy presented to our hospital with nephrotic syndrome relapse and signs of steroid toxicity in the form of posterior capsular cataract, affection of linear growth and stage 2 hypertension, in addition to steroid induced adiposity and fungal infection of the scalp resulting in cicatricial alopecia. He was diagnosed as nephrotic syndrome 6 months back. He went into remission with st...

Patients with nephrotic syndrome are at risk of developing thrombosis in both veins and arteries. Various manifestations in different organs have been reported. Thrombi in heart seen, associated with multiorgan thrombosis have been reported on autopsy earlier, but only once in a living patient with nephrotic syndrome. Here, we report a 13 years old boy with steroid-resistant nephrotic syndrome,...

OBJECTIVES Familial steroid-sensitive idiopathic nephrotic syndrome is rare, and only approximately 3% of patients have affected siblings. METHODS Herein, we report seven cases of patients with steroid-sensitive idiopathic nephrotic syndrome from three Chinese families. Mutational screening of the Nphs2 gene was performed in all the patients. RESULTS All seven of the familial steroid-sensit...

OBJECTIVE: To find out the pattern of glomerulopathies in paediatric population, undergoing renal biopsy at Khyber Teaching Hospital, Peshawar. METHODS: This was a prospective study carried out at the department of Nephrology at Khyber Teaching Hospital, Peshawar from June 2010 till June 2012. Ultrasound guided percutaneous renal biopsies were carried out in patients with the finding of; 1) Nep...