Clinical and genetic factors are associated with kidney complications in African children with sickle cell anaemia
| Autor: | D. Betukumesu, Lambertus P. van den Heuvel, Veerle Labarque, Elena Levtchenko, Agathe Bikupe Nkoy, Oyindamola C Adebayo, Pépé Mfutu Ekulu, Oluyomi Modupe Adesoji |
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| Rok vydání: | 2021 |
| Předmět: |
Erythrocyte Indices
Male medicine.medical_specialty Adolescent Apolipoprotein L1 Renal function Black People Anemia Sickle Cell beta-Globins Kidney Function Tests Gastroenterology Sickle cell nephropathy chemistry.chemical_compound Internal medicine Genotype medicine Humans Genetic Predisposition to Disease Child Creatinine Kidney biology business.industry Genetic Variation Hematology medicine.disease Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11] medicine.anatomical_structure Cross-Sectional Studies chemistry Child Preschool Mutation biology.protein Albuminuria Female Kidney Diseases Disease Susceptibility medicine.symptom business Heme Oxygenase-1 Kidney disease Glomerular Filtration Rate |
| Zdroj: | British Journal of Haematology, 196, 204-214 British Journal of Haematology, 196, 1, pp. 204-214 |
| ISSN: | 0007-1048 |
| DOI: | 10.1111/bjh.17832 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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