Another autosomal recessive form of focal glomerulosclerosis with neurological findings.
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.
Nakazato
Hitoshi
H
Department of Pediatrics, Kumamoto University School of Medicine, 1-1-1 Honjo, Kumamoto 860-8556, Kumamoto, Japan. hnakazat@fc.kuh.kumamoto-u.ac.jp
Hattori
Shinzaburo
S
Karashima
Shinnyo
S
Kawano
Tomoyasu
T
Seguchi
Sasa
S
Kanahori
Mizuho
M
Endo
Fumio
F
D001284:Atrophy; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D005923:Glomerulosclerosis, Focal Segmental / Q000150:complications* / Q000235:genetics*; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins; D007676:Kidney Failure, Chronic / Q000209:etiology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008831:Microcephaly / Q000150:complications; D009404:Nephrotic Syndrome / Q000209:etiology; D009422:Nervous System Diseases / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree; D011597:Psychomotor Performance; D012640:Seizures / Q000209:etiology
D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein