Clinical and genetic factors are associated with kidney complications in African children with sickle cell anaemia.

Autor: Adebayo OC; Centre for Molecular and Vascular Biology, Department of Cardiovascular Sciences, Katholieke Universiteit Leuven, Leuven, Belgium.; Department of Development and Regeneration, Katholieke Universiteit Leuven, Leuven, Belgium., Betukumesu DK; Division of Nephrology, Department of Paediatrics, Faculty of Medicine, University Hospital of Kinshasa, University of Kinshasa, Kinshasa, Democratic Republic of Congo., Nkoy AB; Department of Development and Regeneration, Katholieke Universiteit Leuven, Leuven, Belgium.; Division of Nephrology, Department of Paediatrics, Faculty of Medicine, University Hospital of Kinshasa, University of Kinshasa, Kinshasa, Democratic Republic of Congo., Adesoji OM; Cologne Centre for Genomics, University of Cologne, Cologne, Germany., Ekulu PM; Division of Nephrology, Department of Paediatrics, Faculty of Medicine, University Hospital of Kinshasa, University of Kinshasa, Kinshasa, Democratic Republic of Congo., Van den Heuvel LP; Department of Development and Regeneration, Katholieke Universiteit Leuven, Leuven, Belgium.; Department of Paediatric Nephrology, Radboud University Medical Centre, Nijmegen, the Netherlands., Levtchenko EN; Department of Development and Regeneration, Katholieke Universiteit Leuven, Leuven, Belgium.; Department of Paediatric Nephrology, University Hospitals Leuven, Leuven, Belgium., Labarque V; Centre for Molecular and Vascular Biology, Department of Cardiovascular Sciences, Katholieke Universiteit Leuven, Leuven, Belgium.; Department of Paediatric Haemato-Oncology, University Hospitals Leuven, Leuven, Belgium.
Jazyk: angličtina
Zdroj: British journal of haematology [Br J Haematol] 2022 Jan; Vol. 196 (1), pp. 204-214. Date of Electronic Publication: 2021 Sep 20.
DOI: 10.1111/bjh.17832
Abstrakt: Clinical and genetic factors have been reported as influencing the development of sickle cell nephropathy (SCN). However, such data remain limited in the paediatric population. In this cross-sectional study, we enrolled 361 sickle cell disease children from the Democratic Republic of Congo. Participants were genotyped for the beta (β)-globin gene, apolipoprotein L1 (APOL1) risk variants, and haem oxygenase-1 (HMOX1) GT-dinucleotide repeats. As markers of kidney damage, albuminuria, hyperfiltration and decreased estimated glomerular filtration with creatinine (eGFRcr) were measured. An association of independent clinical and genetic factors with these markers of kidney damage were assessed via regression analysis. Genetic sequencing confirmed sickle cell anaemia in 326 participants. Albuminuria, hyperfiltration and decreased eGFRcr were present in 65 (20%), 52 (16%) and 18 (5·5%) patients, respectively. Regression analysis revealed frequent blood transfusions, indirect bilirubin and male gender as clinical predictors of SCN. APOL1 high-risk genotype (G1/G1, G2/G2 and G1/G2) was significantly associated with albuminuria (P = 0·04) and hyperfiltration (P = 0·001). HMOX1 GT-dinucleotide long repeats were significantly associated with lower eGFRcr. The study revealed a high burden of kidney damage among Congolese children and provided evidence of the possible role of APOL1 and HMOX1 in making children more susceptible to kidney complications.
(© 2021 British Society for Haematology and John Wiley & Sons Ltd.)
Databáze: MEDLINE
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