Clinical and genetic factors are associated with kidney complications in African children with sickle cell anaemia
| العنوان: | Clinical and genetic factors are associated with kidney complications in African children with sickle cell anaemia |
|---|---|
| المؤلفون: | D. Betukumesu, Lambertus P. van den Heuvel, Veerle Labarque, Elena Levtchenko, Agathe Bikupe Nkoy, Oyindamola C Adebayo, Pépé Mfutu Ekulu, Oluyomi Modupe Adesoji |
| المصدر: | British Journal of Haematology, 196, 204-214 British Journal of Haematology, 196, 1, pp. 204-214 |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 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 |
| الوصف: | 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. |
| تدمد: | 0007-1048 |
| DOI: | 10.1111/bjh.17832 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::401edf8b7805c7ec595b32bc3b67a65e https://doi.org/10.1111/bjh.17832 |
| Rights: | RESTRICTED |
| رقم الانضمام: | edsair.doi.dedup.....401edf8b7805c7ec595b32bc3b67a65e |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00071048 |
|---|---|
| DOI: | 10.1111/bjh.17832 |