Atmaca Mustafa, Gülhan Bora, Atayar Emine, Bayazıt Aysun Karabay, Candan Cengiz, Arıcı Mustafa, Topaloğlu Rezan, Özaltın Fatih
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
Division of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara.
Turk J Pediatr. 2019;61(5):657-663. doi: 10.24953/turkjped.2019.05.003.
Atmaca M, Gülhan B, Atayar E, Karabay Bayazıt A, Candan C, Arıcı M, Topaloğlu R, Özaltın F. Long-term follow-up results of patients with ADCK4 mutations who have been diagnosed in the asymptomatic period: effects of early initiation of CoQ10 supplementation. Turk J Pediatr 2019; 61: 657-663. ADCK4-related glomerulopathy is a recently recognized clinical entity associated with insidious onset in young children and a high potential to progress to chronic kidney disease in adolescents. Early initiation of exogenous coenzyme Q10 (CoQ10) supplementation in the asymptomatic period could be protective on renal functions. In the present study, we aimed to investigate long-term follow-up of patients that we have diagnosed during the asymptomatic period and in whom we started CoQ10 treatment. We analyzed long-term effects of CoQ10 on proteinuria and estimated glomerular filtration rate (eGFR) in this patient population. A total of 8 patients (4 female, 4 male) from 6 different families were included. The mean age at diagnosis and at last visit were 16.8±11.2 years and 20.7±11.7 years, respectively. None of the patients had extrarenal system involvement. At the time of initiation of treatment; median eGFR was 107.8 ml/min/1.73 m2, median proteinuria was 1008 mg/m2/day. After a median follow-up period of 25.3±5.8 months, median proteinuria decreased to 318.5 mg/m2/day (p=0.03) and median eGFR remained stable at 99.6 ml/min/1.73 m2 (p=0.21). Coenzyme Q10 treatment is effective for reducing proteinuria and seems to be renoprotective.
阿特马卡M、居尔汗B、阿塔亚尔E、卡拉巴伊·巴亚尔ıt A、坎丹C、阿ıcı M、托帕洛ğlu R、厄兹阿尔tı F。无症状期诊断的ADCK4突变患者的长期随访结果：早期开始补充辅酶Q10的效果。《土耳其儿科学杂志》2019年；61：657 - 663。ADCK4相关肾小球病是一种最近被认识的临床实体，与幼儿隐匿起病以及青少年进展为慢性肾脏病的高风险相关。在无症状期早期开始补充外源性辅酶Q10（CoQ10）可能对肾功能有保护作用。在本研究中，我们旨在调查在无症状期诊断并开始CoQ10治疗的患者的长期随访情况。我们分析了CoQ10对该患者群体蛋白尿和估计肾小球滤过率（eGFR）的长期影响。总共纳入了来自6个不同家庭的8名患者（4名女性，4名男性）。诊断时和最后一次随访时的平均年龄分别为16.8±11.2岁和20.7±11.7岁。所有患者均无肾外系统受累。开始治疗时；eGFR中位数为107.8 ml/min/1.73 m²，蛋白尿中位数为1008 mg/m²/天。经过中位数为25.3±5.8个月的随访期后，蛋白尿中位数降至318.5 mg/m²/天（p = 0.03），eGFR中位数稳定在99.6 ml/min/1.73 m²（p = 0.21）。辅酶Q10治疗对降低蛋白尿有效，似乎具有肾脏保护作用。
