Document Detail

Another autosomal recessive form of focal glomerulosclerosis with neurological findings.
MedLine Citation:
PMID:  11793129     Owner:  NLM     Status:  MEDLINE    
We report four patients in a consanguineous family with focal segmental glomerulosclerosis (FSGS), early onset nephrotic syndrome, eventual end-stage renal failure, psychomotor retardation, seizures and microcephaly or brain atrophy without hiatus hernia. Other characteristic dysmorphic features were convergent strabismus and narrow forehead. One patient had enamel hypoplasia of the upper incisors and deviation of bilateral thumbs to palm side. We could not detect an NPHS2 mutation in this family. We propose that this may be another autosomal recessive syndrome with FSGS and neurological findings.
Hitoshi Nakazato; Shinzaburo Hattori; Shinnyo Karashima; Tomoyasu Kawano; Sasa Seguchi; Mizuho Kanahori; Fumio Endo
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric nephrology (Berlin, Germany)     Volume:  17     ISSN:  0931-041X     ISO Abbreviation:  Pediatr. Nephrol.     Publication Date:  2002 Jan 
Date Detail:
Created Date:  2002-01-16     Completed Date:  2002-02-26     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8708728     Medline TA:  Pediatr Nephrol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  16-9     Citation Subset:  IM    
Department of Pediatrics, Kumamoto University School of Medicine, 1-1-1 Honjo, Kumamoto 860-8556, Kumamoto, Japan.
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MeSH Terms
Brain / pathology
Child, Preschool
Genes, Recessive*
Glomerulosclerosis, Focal Segmental / complications*,  genetics*
Intracellular Signaling Peptides and Proteins
Kidney Failure, Chronic / etiology
Membrane Proteins / genetics
Microcephaly / complications
Nephrotic Syndrome / etiology
Nervous System Diseases / etiology*,  pathology,  physiopathology
Psychomotor Performance
Seizures / etiology
Reg. No./Substance:
0/Intracellular Signaling Peptides and Proteins; 0/Membrane Proteins; 0/NPHS2 protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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