Clinical and genetic predictors of renal dysfunctions in sickle cell anaemia in Cameroon

Autor: Bernard Chetcha Chemegni, Amy Geard, Gift D. Pule, Valentina Josiane Ngo Bitoungui, Emile R. Chimusa, Ambroise Wonkam, Andre Pascal Kengne
Rok vydání: 2016
Předmět:
Male
Apolipoprotein L1
030232 urology & nephrology
urologic and male genital diseases
Gastroenterology
chemistry.chemical_compound
0302 clinical medicine
Risk Factors
Cameroon
Prospective Studies
Renal Insufficiency
Prospective cohort study
Child
Mean corpuscular volume
2. Zero hunger
medicine.diagnostic_test
biology
Anthropometry
Hematology
Middle Aged
female genital diseases and pregnancy complications
3. Good health
030220 oncology & carcinogenesis
Child
Preschool
Female
medicine.symptom
Lipoproteins
HDL
Glomerular hyperfiltration
Glomerular Filtration Rate
Adult
medicine.medical_specialty
Adolescent
Renal function
Anemia
Sickle Cell
Article
03 medical and health sciences
Internal medicine
medicine
Albuminuria
Humans
Genetic Predisposition to Disease
Glycated Hemoglobin
Creatinine
business.industry
urogenital system
Genetic Variation
Endocrinology
Apolipoproteins
chemistry
biology.protein
business
Body mass index
Gene Deletion
Heme Oxygenase-1
Zdroj: British journal of haematology. 178(4)
ISSN: 1365-2141
Popis: Micro-albuminuria and glomerular hyperfiltration are primary indicators of renal dysfunctions in Sickle Cell Disease (SCD), with more severe manifestations previously associated with variants in APOL1 and HMOX1 among African Americans. We have investigated 413 SCD patients from Cameroon. Anthropometric variables, haematological indices, crude albuminuria, albumin-to-creatinine ratio (ACR) and estimated glomerular filtration rate (eGFR) were measured. Patients were genotyped for 3·7 kb alpha-globin gene (HBA1/HBA2) deletion, and for variants in APOL1 (G1/G2; rs60910145, rs73885319, rs71785313) and HMOX1 (rs3074372, rs743811). The median age was 15 years; the majority presented with micro-albuminuria (60·9%; n = 248), and approximately half with glomerular hyperfiltration (49·5%; n = 200). Age, male sex, haemoglobin level, leucocyte count, mean corpuscular volume, blood pressure, body mass index and creatinine levels significantly affected albuminuria and/or eGFR. Co-inheritance of alpha-thalassaemia was protective against macro-albuminuria (P = 0·03). APOL1 G1/G2 risk variants were significantly associated with the ACR (P = 0·01) and borderline with eGFR (P = 0·07). HMOX1 - rs743811 was borderline associated with micro-albuminuria (P = 0·07) and macro-albuminuria (P = 0·06). The results revealed a high proportion of micro-albuminuria and glomerular hyperfiltration among Cameroonian SCD patients, and support the possible use of targeted genetic biomarkers for risks assessment.
Databáze: OpenAIRE
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