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Kidney dysfunction and beta S-haplotypes in patients with sickle cell disease
Lilianne Brito da Silva Rocha1, Geraldo Bezerra da Silva Jn, Elizabeth de Francesco Daher
1Universidade Federal do Ceará - UFC, Fortaleza, CE, Brazil.
Revista Brasileira De Hematologia E Hemoterapia
|August 2, 2013
Summary
Sickle cell disease patients showed no significant differences in kidney dysfunction based on their hemoglobin S haplotypes. Further research is needed to understand genetic associations with kidney health in sickle cell disease.
Area of Science:
- Nephrology
- Hematology
- Genetics
Background:
- Sickle cell disease (SCD) is a genetic blood disorder.
- Kidney dysfunction is a common complication in SCD.
- Hemoglobin S haplotypes may influence SCD severity and complications.
Purpose of the Study:
- To investigate the association between kidney dysfunction and specific hemoglobin S haplotypes in sickle cell disease patients.
- To determine if genetic variations influence the risk or presence of kidney problems in SCD.
Main Methods:
- Studied 84 sickle cell disease patients.
- Assessed glomerular filtration rate (GFR) using the Modification of Diet in Renal Disease (MDRD) equation.
- Evaluated urinary concentrating ability and acidification.
- Determined hemoglobin S haplotypes using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
Main Results:
- Glomerular filtration rate was normal in 30% of patients and >120 mL/min in 62%.
- All tested patients had urinary concentration deficits, and 22% had urinary acidification issues.
- No significant differences in kidney dysfunction were observed between Bantu/Bantu and Benin/Benin haplotypes.
- Central African Republic-haplotype patients showed a trend towards GFRs between 60-120 mL/min.
Conclusions:
- No significant association was found between sickle cell disease haplotypes and kidney dysfunction.
- Genetic factors, specifically studied haplotypes, do not appear to be major determinants of kidney dysfunction in this cohort.
- Further investigation into other genetic and environmental factors is warranted.
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