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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