[Familial focal and segmentary hyalinosis].
Focal segmental glomerulosclerosis represents a finding in several renal disorders, characterized by proteinuria and sometimes by arterial hypertension and progressive decline in renal function. There are primary (idiopathic and familial) and secundary forms. In the last 20 years several familial cases has been reported, with a great genetic heterogeneity (dominant and recessive forms) and with multiple associations with particular MHC class-I and class-II gene loci, being Al, DR3 o DR7 the most frequently reported. We described three members of same family with focal segmental hyalinosis that shared the HLA haplotype A31 B61 DR13. This association has not been described previously. We highlight that genetic and acquired factors (obesity, hypertension...) could have importance in the development of progressive renal failure in these patients.
Sánchez de la Nieta
M D
MD
Sección de Nefrología, Hospital Alarcos, Avda., Pío XII, s/n. 13002 Ciudad Real.
Arias
L F
LF
Alcázar
R
R
de la Torre
M
M
González
L
L
Rivera
F
F
Blanco
J
J
Ferreras
I
I
D000328:Adult; D020022:Genetic Predisposition to Disease; D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D015234:HLA-A Antigens / Q000235:genetics; D015235:HLA-B Antigens / Q000235:genetics; D006684:HLA-DR Antigens / Q000235:genetics; D059810:HLA-DR Serological Subtypes; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D006949:Hyperlipidemias / Q000150:complications; D006973:Hypertension / Q000150:complications; D016030:Kidney Transplantation; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000150:complications; D012008:Recurrence
D015234:HLA-A Antigens; C069527:HLA-A31 antigen; D015235:HLA-B Antigens; C079077:HLA-B61 antigen; D006684:HLA-DR Antigens; D059810:HLA-DR Serological Subtypes; C097337:HLA-DR13 antigen