Ara
Toplam kayıt 29, listelenen: 11-20
Wilms' Tumor In Children: An Overview
(Karger, 2008)
Wilms' tumor is the most frequently occurring renal tumor in children and is one of the most treatment-responsive tumors. A tumor-suppressor gene and other genetic abnormalities have been implicated in its etiology. In ...
Mutational Analysis Of The Xanthine Dehydrogenase Gene In A Turkish Family With Autosomal Recessive Classical Xanthinuria
(Oxford Univ Press, 2003)
Background. Classical xanthinuria is classified into two categories: type I, deficient only in xanthine dehydrogenase (XDH) activity; and type II, deficient in both XDH and aldehyde oxidase. Both types present mainly with ...
A Case of Kaposi's Sarcoma Following Treatment of Membranoproliferative Glomerulonephritis and a Review of the Literature
(Taylor & Francis Ltd, 2007)
Kaposi's sarcoma (KS) is an unusual tumor principally affecting the skin of the lower extremities. Although the association between KS and renal transplant has been well documented, there are a few KS cases in the literature ...
Peritonitis in Children Who Receive Long-Term Peritoneal Dialysis: A Prospective Evaluation of Therapeutic Guidelines
(Amer Soc Nephrology, 2007)
In children who are on chronic peritoneal dialysis, peritonitis is the primary complication compromising technique survival, and the optimal therapy of peritonitis remains uncertain. An Internet-based International Pediatric ...
Recessive Missense Mutations in Lamb2 Expand the Clinical Spectrum of Lamb2-Associated Disorders
(Elsevier Science Inc, 2006)
Congenital nephrotic syndrome is clinically and genetically heterogeneous. The majority of cases can be attributed to mutations in the genes NPHS1, NPHS2, and WT1. By homozygosity mapping in a consanguineous family with ...
Mutations In Plce1 Are A Major Cause Of Isolated Diffuse Mesangial Sclerosis (Idms)
(Oxford Univ Press, 2008)
Background and objectives. Diffuse mesangial sclerosis (DMS) is a histologically distinct variant of nephrotic syndrome (NS) that is characterized by early onset and by progression to end-stage kidney disease (ESKD). Besides ...
Patients with Mutations in Nphs2 (Podocin) Do not Respond To Standard Steroid Treatment of Nephrotic Syndrome
(Amer Soc Nephrology, 2004)
Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Steroid-resistant NS (SRNS) is defined by primary resistance to standard steroid therapy. It remains one of the ...
Specific Podocin Mutations Correlate With Age Of Onset In Steroid-Resistant Nephrotic Syndrome
(Amer Soc Nephrology, 2008)
Mutations in the gene encoding podocin (NPHS2) cause autosomal recessive steroid-resistant nephrotic syndrome (SRNS). For addressing the possibility of a genotype-phenotype correlation between podocin mutations and age of ...
The Position Of The Polycystic Kidney Disease 1 (Pkd1) Gene Mutation Correlates With The Severity Of Renal Disease
(Amer Soc Nephrology, 2002)
The severity of renal cystic disease in the major form of autosomal dominant polycystic kidney disease (PKD1) is highly variable. Clinical data was analyzed from 324 mutation-characterized PKD1 patients (80 families) to ...
Thirteen Novel Nphs1 Mutations In A Large Cohort Of Children With Congenital Nephrotic Syndrome
(Oxford Univ Press, 2008)
Background. Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome that manifests at birth or within the first 3 months of life. Most patients develop end-stage renal disease (ESRD) within 2 to 3 years of ...