Clinical and genetic factors are associated with kidney complications in African children with sickle cell anaemia.
Adolescent
Anemia, Sickle Cell
/ complications
Apolipoprotein L1
/ genetics
Black People
Child
Child, Preschool
Cross-Sectional Studies
Disease Susceptibility
Erythrocyte Indices
Female
Genetic Predisposition to Disease
Genetic Variation
Glomerular Filtration Rate
Heme Oxygenase-1
/ genetics
Humans
Kidney Diseases
/ diagnosis
Kidney Function Tests
Male
Mutation
beta-Globins
/ metabolism
apolipoprotein L1
children
haem oxygenase-1
kidney disease
sickle cell anaemia
Journal
British journal of haematology
ISSN: 1365-2141
Titre abrégé: Br J Haematol
Pays: England
ID NLM: 0372544
Informations de publication
Date de publication:
01 2022
01 2022
Historique:
revised:
19
08
2021
received:
27
05
2021
accepted:
02
09
2021
pubmed:
22
9
2021
medline:
15
2
2022
entrez:
21
9
2021
Statut:
ppublish
Résumé
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.
Substances chimiques
Apolipoprotein L1
0
beta-Globins
0
HMOX1 protein, human
EC 1.14.14.18
Heme Oxygenase-1
EC 1.14.14.18
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
204-214Informations de copyright
© 2021 British Society for Haematology and John Wiley & Sons Ltd.
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