Understanding why individuals vary in their susceptibility to renal disease is the focus of a comprehensive review of the genetic basis of renal disease by McKnight et al. [1]. The authors note that single gene disorders account for less than 15% of end stage renal disease, even though over 300 inherited disorders have been described that affect the kidneys. In addition to outlining the analyti...

Chronic renal failure is an uncommon disease in children with some difference in the etiology in different countries. In this study on 180 children (From 1987 to 1997 in Shiraz) with age range of 3 months to 15 years (mean 8.6±4.2 years). The male to female ratio was 1. 57: 1. The etiology of chronic renal failure in decreasing order of frequency were: reflux nephropathy (25 % ) , glbmerular di...

Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. We present a case of BBS with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental ...

Renal cystic diseases encompass a broad group of disorders with variable phenotypic expression. Cystic disorders can present during infancy, childhood, or adulthood. Often, but not always, they can be distinguished by the clinical features including age at presentation, renal imaging characteristics, including cyst distribution, and the presence/distribution of extrarenal manifestations. It is ...

OBJECTIVE The current study aimed to investigate the spectrum of etiologies and associated disorders of renal biopsy-proven thrombotic microangiopathy (TMA) patients. METHODS The clinical, laboratory, and renal histopathological data of patients with renal TMA from 2000 to 2012 in our institute were collected and reviewed. RESULTS One hundred and nine TMA patients were enrolled in this stud...

It is well known that statins exert their main effect by inhibiting cholesterol synthesis through the inhibition of the 3-hydroxy-3-methyl-glutaryl-CoA reductase enzyme. The pleiotropic effects of statins, which are independent of their inhibition of cholesterol synthesis, have explained many of the beneficial effects of these drugs in a variety of disorders such as malignancies, infection, and...

Renal acid-base balance may become deranged in a number of ways, some of which are the consequence of inherited disorders. Two main groups of distal renal acidopathies result either from a direct inability to secrete acid in the distal nephron (giving rise to type 1 renal tubular acidosis [RTA]) or as an inherited or functional consequence of hypoaldosteronism, leading to type 4 (hyperkalemic) ...

  Cartilage hair hypoplasia (CHH), is a rare cause of metaphyseal chondrodysplasia and short stature. Other features included hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (Hirschsprung disease, celiac, …) and increased risk of cancer. The disease is an autosomal recessive disorder and previously has not been reported in Iran. We report a 9-year-old boy diagnosed as car...

introduction: the prevalence of rare bleeding disorders, including combined factor v+viii deficiency are higher in iran than in developed countries. there are only a few reports which have been written concerning kidney transplantation in the patients suffering from these disorders. case report: a 22-year old girl, with a known case of combined factor v+viii deficiency, a history of bladder sto...

At 30 minutes after intravenous administration of the glomerular renal agent TC-99m-DTPA, both right and left lateral views were obtained. We analyzed the ratio of optical densities (behind the ureter/In front of the ureter). In patients without gross renal failure or retroperitoneal disease, the ratio was always less than 1 (range 0.38 to 0.95, mean 0.68). This represents greater perfusi...