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...

in this case report, we present the first diagnosed case of galloway- mowat syndrome in iran. a 7 month old infant boy with microcephaly that had prominently stunted head growth after birth, gastroesophageal reflux, multiple craniofascial characters, hypothyroidism and nephrotic syndrome diagnosed at 5 months of age associated with rapid decline in renal function and heavy proteinuria in 2 mont...

      Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder presented with specific facial features, skeletal dysplasia, steroid resistance nephrotic syndrome (SRNS) and cellular immune insufficiency. This is a SIOD case reported from Iran. He was 5 years old boy when evaluated for proteinuria and short stature. In appearance, we detected hyperpigmented macules, kyphosc...

Background. Nephrotic syndrome is caused by a variety of glomerulopathy. The current study investigated the renal histopathological spectrum of patients with nephrotic syndrome who received a renal biopsy in our department within the last 15 years. Methods. One thousand five hundred and twenty-three consecutive patients ( 14 years old at renal biopsy) with nephrotic syndrome were recruited. Pat...

BACKGROUND AND PURPOSE Thrombosis is one of the main complications of nephrotic syndrome; however, cerebral infarction associated with nephrotic syndrome has been rarely reported. SUMMARY OF REPORT We describe acute cerebral infarction in two young men with nephrotic syndrome. Both had a hypercoagulable state based on hemostatic studies. By retrospectively reviewing the medical records of the...

a 3-year-old girl was presented with periorbital edema, hypertension, proteinuria, and hematuria. she recovered clinically after 9 days with normal urinalysis. during the follow-up, she developed recurrent episodes of nephrotic syndrome. the kidney biopsy revealed mild mesangial proliferation and a low dose of prednisolone could effectively control the disease. iran j med sci 2005; 30(1): 38-40...

Introduction In children with nephrotic syndrome, it is probable to determine a hypothyroid state because of thyroxine (T4), tri-iodothyronine (T3) and thyroid-binding globulin loss in presence of proteinuria. Objectives: To examine thyroid function in pediatric cases of nephrotic syndrome. Methods: In a cross-sectional study, from march 2010 to march 2012, thyroid function tests were performed...

BACKGROUND Nephrotic syndrome is an immune mediated disorder of the kidney associated with T cell dysfunction and secondary disturbance of B cell with changes in levels of immunoglobulin and IgG:IgM ratio. These changes in immunoglobulin levels can be used as a proxy marker to understand the clinical variety and prognosis of nephrotic syndrome. METHODS We studied 43 children with nephrotic sy...

Oedema is a common clinical manifestation of nephrotic syndrome. However, the pathophysiological mechanism of sodium retention in nephrotic syndrome has been intensely debated for decades. Several clinical and experimental observations argue against the classic or "underfill" hypothesis of oedema formation in nephrotic syndrome. In many patients, oedema formation in nephrotic syndrome is due to...