Document Detail

Variants of alpha 1-proteinase inhibitor in black and white South African patients with focal glomerulosclerosis and minimal change nephrotic syndrome.
MedLine Citation:
PMID:  9475086     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To determine the prevalence and biochemical characteristics of certain alleles of alpha 1-proteinase inhibitor in black and white South African patients with two common types of pathology causing the nephrotic syndrome. DESIGN: A cross sectional study of black and white patients with focal glomerulosclerosis (FGS) or minimal change disease (MCNS) and black and white controls. SETTING: The patients were drawn from the Paediatric Nephrology Units at the Johannesburg and Baragwanath Hospitals and the controls were drawn from the South African Blood Transfusion Service and the Paediatric Nephrology Clinic in Johannesburg. RESULTS: There was a significant increase in the prevalence of the V allele in black patients with FGS (12%) as compared to black controls (1%) (p = 0.01). None of the white patients with FGS had the V allele but two out the five coloured (mixed race) patients had the V allele (20%). An increase in the prevalence of the S allele of alpha 1PI was found in white patients with FGS and MCNS (10%) as compared to white controls (2%). The plasma elastase inhibitory capacity (EIC) associated with the phenotypes (PI) M1 (Ala213)S, M1 (Ala213) V, and M1 (Ala213) M1 (Ala213) was significantly decreased as compared to the EIC associated with PI M1 (Val213) M1 (Val213) (p = 0.006, p = 0.004, and p = 0.025, respectively). Twelve of 13 patients with FGS and infected with tuberculosis had either the M1 (Ala213) V or F alleles and required transplantation owing to the severity of the disease. All of these patients were either black or coloured. However, eight of 12 patients with FGS who had the M1 (Ala213) V or S alleles but were PPD negative did not require transplantation. CONCLUSION: It is possible that the combination of functionally less efficient alpha 1PI and an inflammatory challenge associated with an infection such as tuberculosis could predispose black and coloured nephrotic patients to more aggressive scarring in FGS.
A C Halkas; M C Gaillard; P D Thomson; S L Green; H Ludewick; U Kala
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  35     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1998 Jan 
Date Detail:
Created Date:  1998-03-26     Completed Date:  1998-03-26     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  6-9     Citation Subset:  IM    
Department of Paediatrics and Child Health, University of the Witwatersrand Medical School, Johannesburg, South Africa.
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MeSH Terms
African Continental Ancestry Group / genetics*
Child, Preschool
European Continental Ancestry Group / genetics*
Gene Frequency
Genetic Variation
Glomerulosclerosis, Focal Segmental* / enzymology,  ethnology,  genetics
Nephrosis, Lipoid* / enzymology,  ethnology,  genetics
South Africa
alpha 1-Antitrypsin / genetics*,  metabolism
Reg. No./Substance:
0/alpha 1-Antitrypsin

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