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Table 1 Patients with ADCK4 mutations treated with CoQ10 reported to date

From: Urinary coenzyme Q10 as a diagnostic biomarker and predictor of remission in a patient with ADCK4-associated Glomerulopathy: a case report

Nucleotide mutation Exon Amino acid change Age at onset Kidney disease Origin Histology Renal ultrasound CoQ10 start Treatment/CoQ10 dose (duration) Response Extrarenal findings Reference
c.1199-1200insA 13(hom) p.H400Nfs11 < 1 yr NS Turkey FSGS NDA 1 yr CoQ10: 15 mg/kg/d; prednisolone, ACE-I, cyclophosphamide Proteinuria partial remission Neurological development delay [4]
c.293 T > G NDA p.L98R 27 yr Proteinuria Turkey FSGS NDA 27 yr CoQ10: 10 mg/kg/d Proteinuria partial remission None [5]
c.1339dupG NDA p.E447Gfs10 9 yr Albuminuria Turkey FSGS NDA 9 yr CoQ10: 30 mg/kg/d Proteinuria partial remission None [5]
c.748G > C
c.532C > T
9(hom)
7(hom)
p.D250H
p.R178W
9 mo Proteinuria China NDA Normal 9 mo CoQ10:15–30 mg/kg/d (12mo) Proteinuria full remission Mental developmental retardation [6]
c.614C > T 8(hom) p.S205N 11 yr NS China FSGS Echo enhancement 11 yr CoQ10:15–30 mg/kg/d (12mo) Progress to CKD None [6]
c.625C > G NDA p.D209H 14 yr Proteinuria China FSGS Increased medullary echogenicity 14 yr CoQ10:150 mg/d (3mo) uPCR:1.54 g/g to 0.95 g/g None [7]
  1. NS Nephrotic syndrome, FSGS Focal segmental glomerulosclerosis, ACE-I Angiotensin-converting-enzyme inhibitors, NDA No data available, CKD Chronic kidney disease, uPCR Urinary protein/creatinine ratio, hom Homozygous, yr Year-old, mo Month