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Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.
BACKGROUND AND OBJECTIVES Atypical hemolytic uremic syndrome (aHUS) is a rare complement-mediated kidney disease that was first recognized in children but also affects adults. This study assessed theExpand
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Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome.
Mutations in factor H (CFH), factor I (IF), and membrane cofactor protein (MCP) genes have been described as risk factors for atypical hemolytic uremic syndrome (aHUS). This study analyzed the impactExpand
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Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
Pathologic thrombosis is a major cause of mortality. Hemolytic-uremic syndrome (HUS) features episodes of small-vessel thrombosis resulting in microangiopathic hemolytic anemia, thrombocytopenia andExpand
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Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.
The hepatocyte nuclear factor-1beta encoded by the TCF2 gene plays a role for the specific regulation of gene expression in various tissues such as liver, kidney, intestine, and pancreatic islets andExpand
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Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.
Factor H (FH) is the major regulatory protein of the complement alternative pathway, with a structure consisting of a tandem array of 20 homologous units, called short consensus repeats (SCR).Expand
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INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
BACKGROUND Charcot-Marie-Tooth neuropathy has been reported to be associated with renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, the common mechanisms underlying theExpand
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Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
ABSTRACT.: Inherited hypokalemic renal tubulopathies are differentiated into at least three clinical subtypes: (1) the Gitelman variant of Bartter syndrome (GS); (2) hyperprostaglandin E syndrome,Expand
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Acute neurological involvement in diarrhea-associated hemolytic uremic syndrome.
BACKGROUND AND OBJECTIVES Neurologic involvement is the most threatening complication of diarrhea-associated hemolytic uremic syndrome (D+HUS). DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS WeExpand
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Antenatal membranous glomerulonephritis due to anti-neutral endopeptidase antibodies.
The hallmark of membranous glomerulonephritis, a major primary nephropathy, is the presence of immune deposits on the outer aspect of the glomerular basement membrane. The cause of such deposits in...
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Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
Nephronophthisis is an autosomal recessive chronic tubulointerstitial disease that progresses to end-stage renal disease (ESRD) in about 10% of cases during infancy. Mutations in the INVS (NPHP2)Expand
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