Introduction
Materials and methods
Patients
Ethics statement
Collection, storage, and transport of blood and buccal mucosa cell samples
DNA extraction, PCR amplification, and electrophoresis
APOL1genotyping
Statistical analysis
Results
Study population
Parameter | Value | (%) [1st-3rd quartiles] |
---|---|---|
Total number | 23 | (100%) |
Age in years (median) | 25 | [20–37] |
Age range | 15–62 | |
Female | 19 | (83%) |
Self-reported skin color | ||
Black | 12 | (52%) |
Mixed-race | 10 | (44%) |
White | 1 | (4%) |
Clinical presentation | ||
Systemic Arterial Hypertension | 20 | (87%) |
Nephrotic range proteinuria | 14 | (64%) |
Non-nephrotic proteinuria | 8 | (36%) |
Renal failure | 8 | (35%) |
Diabetes mellitus | 3 | (13%) |
Laboratory results (median) | ||
Albumin (g/dL) | 2.6 | [1.7–3.4] |
Creatinine (mg/dL) | 0.9 | [0.7–1.6] |
Urea (mg/dL) | 41 | [32–55] |
Total cholesterol (mg/dL) | 236 | [198–374] |
24-hour proteinuria (g/24 h) | 4.7 | [1.5–12.4] |
Histological diagnosis: | ||
Lupus nephritis | 9 | (39%) |
Focal and segmental glomerular sclerosis | 5 | (22%) |
Membranous glomerulopathy | 3 | (13%) |
IgA Nephropathy | 2 | (9%) |
Membranoproliferative glomerulonephritis | 1 | (4%) |
Focal glomerulonephritis | 1 | (4%) |
Vasculitis of small arteries | 1 | (4%) |
Insufficient sample material for diagnosis | 1 | (4%) |
PCR amplification ofAPOL1in buccal mucosa cell samples
Characterization ofAPOL1SNPs, insdel, and alleles in buccal cell samples
Id # | SNPs/Insdel | Haplotypes | ||||||
---|---|---|---|---|---|---|---|---|
rs73885319 [A/G] | rs60910145 [G/T] | rs71785313 [-/ATAATT/TTATAA] | Whole blood | Buccal mucosa cells | ||||
Patient 1 | 1 | 1 | 4 | 4 | 2 | 2 | G0/G0 | G0/G0 |
Patient 2 | 1 | 3 | 3 | 4 | 2 | 2 | G0/G1 | G0/G1 |
Patient 3 | 3 | 3 | 3 | 3 | 2 | 2 | G1/G1 | G1/G1 |
Patient 4 | 1 | 1 | 4 | 4 | 1 | 2 | G0/G2 | G0/G2 |
Patient 5 | 1 | 1 | 4 | 4 | 1 | 1 | G2/G2 | G2/G2 |
Patient 6 | 1 | 3 | 3 | 4 | 1 | 2 | G1/G2 | G1/G2 |
Patient 7 | 1 | 1 | 4 | 4 | 2 | 2 | G0/G0 | G0/G0 |
Patient 8 | 1 | 1 | 4 | 4 | 2 | 2 | G0/G0 | G0/G0 |
Patient 9 | 1 | 1 | 4 | 4 | 2 | 2 | G0/G0 | G0/G0 |
Patient 10 | 1 | 1 | 4 | 4 | 1 | 2 | G0/G2 | G0/G2 |
Patient 11 | 1 | 1 | 4 | 4 | 1 | 2 | G0/G2 | G0/G2 |
Patient 12 | 1 | 1 | 4 | 4 | 2 | 2 | G0/G0 | G0/G0 |
Patient 13 | 1 | 1 | 4 | 4 | 2 | 2 | G0/G0 | G0/G0 |
Patient 14 | 1 | 1 | 4 | 4 | 2 | 2 | G0/G0 | G0/G0 |
Patient 15 | 1 | 1 | 4 | 4 | 2 | 2 | G0/G0 | G0/G0 |
Patient 16 | 1 | 1 | 4 | 4 | 2 | 2 | G0/G0 | G0/G0 |
Patient 17 | 1 | 1 | 4 | 4 | 2 | 2 | G0/G0 | G0/G0 |
Patient 18 | 1 | 1 | 4 | 4 | 2 | 2 | G0/G0 | G0/G0 |
Patient 19 | 1 | 1 | 4 | 4 | 2 | 2 | G0/G0 | G0/G0 |
Patient 20 | 1 | 1 | 4 | 4 | 2 | 2 | G0/G0 | G0/G0 |
Patient 21 | 1 | 1 | 4 | 4 | 2 | 2 | G0/G0 | G0/G0 |
Patient 22 | 1 | 1 | 4 | 4 | 2 | 2 | G0/G0 | G0/G0 |
Patient 23 | 1 | 1 | 4 | 4 | 2 | 2 | G0/G0 | G0/G0 |