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Pediatric Nephrology

, Volume 32, Issue 8, pp 1369–1375 | Cite as

Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment

  • Mustafa Atmaca
  • Bora Gulhan
  • Emine Korkmaz
  • Mihriban Inozu
  • Oguz Soylemezoglu
  • Cengiz Candan
  • Aysun Karabay Bayazıt
  • Ahmet Midhat Elmacı
  • Gonul Parmaksiz
  • Ali Duzova
  • Nesrin Besbas
  • Rezan Topaloglu
  • Fatih Ozaltin
Original Article

Abstract

Background

ADCK4-related glomerulopathy is an important differential diagnosis in adolescents with steroid-resistant nephrotic syndrome (SRNS) and/or chronic kidney disease (CKD) of unknown origin. We screened adolescent patients to determine the frequency of ADCK4 mutation and the efficacy of early CoQ10 administration.

Methods

A total of 146 index patients aged 10–18 years, with newly diagnosed non-nephrotic proteinuria, nephrotic syndrome, or chronic renal failure and end-stage kidney disease (ESKD) of unknown etiology were screened for ADCK4 mutation.

Results

Twenty-eight individuals with bi-allelic mutation from 11 families were identified. Median age at diagnosis was 12.4 (interquartile range [IQR] 8.04–19.7) years. Upon first admission, all patients had albuminuria and 18 had CKD (6 ESKD). Eight were diagnosed either through the screening of family members following index case identification or during genetic investigation of proteinuria in an individual with a history of a transplanted sibling. Median age of these 8 patients was 21.5 (range 4.4–39) years. CoQ10 supplementation was administered following genetic diagnosis. Median estimated glomerular filtration rate (eGFR) just before CoQ10 administration was 140 (IQR 117–155) ml/min/1.73m2, proteinuria was 1,008 (IQR 281–1,567) mg/m2/day. After a median follow-up of 11.5 (range 4–21) months following CoQ10 administration, proteinuria was significantly decreased (median 363 [IQR 175–561] mg/m2/day, P=0.025), whereas eGFR was preserved (median 137 [IQR 113–158] ml/min/1.73m2, P=0.61).

Conclusions

ADCK4 mutations are one of the most common causes of adolescent-onset albuminuria and/or CKD of unknown etiology in Turkey. CoQ10 supplementation appears efficacious at reducing proteinuria, and may thereby be renoprotective.

Keywords

Adolescent Nephrotic syndrome Chronic kidney disease ADCK4 mutation CoQ10 supplementation 

Notes

Acknowledgements

The research leading to these results has received funding from the European Community’s Seventh Framework Programme (FP7/2007-2013) under grant agreement no. 2012-305608 (EURenOmics).

Compliance with ethical standards

The study was approved by the ethics committee of Hacettepe University (HEK12/112-13). Written informed consent was obtained from the parents of all the patients.

Conflict of Interest

None

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Copyright information

© IPNA 2017

Authors and Affiliations

  • Mustafa Atmaca
    • 1
  • Bora Gulhan
    • 2
  • Emine Korkmaz
    • 3
  • Mihriban Inozu
    • 2
  • Oguz Soylemezoglu
    • 4
  • Cengiz Candan
    • 5
  • Aysun Karabay Bayazıt
    • 6
  • Ahmet Midhat Elmacı
    • 7
  • Gonul Parmaksiz
    • 8
  • Ali Duzova
    • 2
  • Nesrin Besbas
    • 2
  • Rezan Topaloglu
    • 2
  • Fatih Ozaltin
    • 2
    • 3
    • 9
  1. 1.Department of PediatricsHacettepe University Faculty of MedicineAnkaraTurkey
  2. 2.Department of Pediatric NephrologyHacettepe University Faculty of MedicineSihhiyeTurkey
  3. 3.Nephrogenetics LaboratoryHacettepe University Faculty of MedicineAnkaraTurkey
  4. 4.Department of Pediatric NephrologyGazi University Faculty of MedicineAnkaraTurkey
  5. 5.Division of Pediatric NephrologyIstanbul Medeniyet UniversityIstanbulTurkey
  6. 6.Division of Pediatric NephrologyCukurova University Faculty of MedicineAdanaTurkey
  7. 7.Pediatric NephrologyDr Faruk Sukan Maternity and Children’s HospitalKonyaTurkey
  8. 8.Adana Dr Turgut Noyan Training and Research CenterBaşkent UniversityAdanaTurkey
  9. 9.Hacettepe University Center for Biobanking and GenomicsAnkaraTurkey

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