Fehime K Eroglu1, Fatih Ozaltin2, Nazlı Gönç3, Hülya Nalçacıoğlu4, Z Birsin Özçakar5, Dilek Yalnızoğlu1, Şafak Güçer6, Diclehan Orhan6, Fatma Tuba Eminoğlu7, Rahşan Göçmen8, Ayfer Alikaşifoğlu3, Rezan Topaloğlu1, Ali Düzova9. 1. Division of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey. 2. Division of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey; Nephrogenetics Laboratory, Division of Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey. 3. Division of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey. 4. Division of Pediatric Nephrology, Ondokuz Mayis University Faculty of Medicine, Samsun, Turkey. 5. Division of Pediatric Nephrology, Ankara University Faculty of Medicine, Ankara, Turkey. 6. Department of Pathology, Hacettepe University Faculty of Medicine, Ankara, Turkey. 7. Division of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Turkey. 8. Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey. 9. Division of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: aduzova@hacettepe.edu.tr.
Abstract
BACKGROUND: COQ2 mutations cause a rare infantile multisystemic disease with heterogeneous clinical features. Promising results have been reported in response to Coenzyme Q10 treatment, especially for kidney involvement, but little is known about the long-term outcomes. METHODS: We report four new patients from two families with the c.437G→A (p.Ser146Asn) mutation in COQ2 and the outcomes of two patients after long-term coenzyme Q10 treatment. RESULTS: Index cases from two families presented with vomiting, nephrotic range proteinuria, and diabetes in early infancy. These patients were diagnosed with coenzyme Q10 deficiency and died shortly after diagnosis. Siblings of the index cases later presented with neonatal diabetes and proteinuria and were diagnosed at the first day of life. Coenzyme Q10 treatment was started immediately. The siblings responded dramatically to coenzyme Q10 treatment with normalized glucose and proteinuria levels, but they developed refractory focal clonic seizures beginning at three months of life that progressed to encephalopathy. CONCLUSIONS: In our cohort with CoQ10 deficiency, neurological involvement did not improve with oral coenzyme Q10 treatment despite the initial recovery from the diabetes and nephrotic syndrome.
BACKGROUND:COQ2 mutations cause a rare infantile multisystemic disease with heterogeneous clinical features. Promising results have been reported in response to Coenzyme Q10 treatment, especially for kidney involvement, but little is known about the long-term outcomes. METHODS: We report four new patients from two families with the c.437G→A (p.Ser146Asn) mutation in COQ2 and the outcomes of two patients after long-term coenzyme Q10 treatment. RESULTS: Index cases from two families presented with vomiting, nephrotic range proteinuria, and diabetes in early infancy. These patients were diagnosed with coenzyme Q10 deficiency and died shortly after diagnosis. Siblings of the index cases later presented with neonatal diabetes and proteinuria and were diagnosed at the first day of life. Coenzyme Q10 treatment was started immediately. The siblings responded dramatically to coenzyme Q10 treatment with normalized glucose and proteinuria levels, but they developed refractory focal clonic seizures beginning at three months of life that progressed to encephalopathy. CONCLUSIONS: In our cohort with CoQ10 deficiency, neurological involvement did not improve with oral coenzyme Q10 treatment despite the initial recovery from the diabetes and nephrotic syndrome.
Authors: Aliaa H Abdelhakim; Avinash V Dharmadhikari; Sara D Ragi; Jose Ronaldo Lima de Carvalho; Christine L Xu; Amanda L Thomas; Christie M Buchovecky; Mahesh M Mansukhani; Ali B Naini; Jun Liao; Vaidehi Jobanputra; Irene H Maumenee; Stephen H Tsang Journal: Orphanet J Rare Dis Date: 2020-11-13 Impact factor: 4.123