PDF(Pubmed)
Abstract：
BACKGROUND: Mitochondrial diseases (MDs) are systemic disorders that can affect multiple organs. Renal manifestations, including renal tubular acidosis, are common because kidneys are particularly vulnerable to energy deprivation. Treatment of MDs is often complex and electrolyte replacement can be difficult especially in pediatric patients, because large and repeated amounts of oral supplements are needed but are not well tolerated.
METHODS: We describe the case of a girl affected by Kearns-Sayre disease with severe renal tubular acidosis. The management of her metabolic acidosis was challenging because she showed persistent low levels of serum bicarbonates despite a progressive incrementation of oral bicarbonates. Furthermore, as a result to the ingestion of large amounts of alkali, the girl developed an aversion to oral supplementation. After positioning a percutaneous gastrostomy (PEG) and starting enteral administration of bicarbonates (with daily boluses and continuous nocturnal infusion), she finally obtained an adequate electrolyte control, with a significant increase in her quality of life.
CONCLUSIONS: In MDs, the combination of nocturnal continuous enteral administration of alkali plus diurnal boluses may represent a valid solution to correct metabolic acidosis. It can also result in an improved patients\' quality of life, particularly in pediatric settings, where compliance to oral therapy is often lacking due to the large and repeated amounts of unpalatable bicarbonates solutions required.
METHODS: We describe the case of a girl affected by Kearns-Sayre disease with severe renal tubular acidosis. The management of her metabolic acidosis was challenging because she showed persistent low levels of serum bicarbonates despite a progressive incrementation of oral bicarbonates. Furthermore, as a result to the ingestion of large amounts of alkali, the girl developed an aversion to oral supplementation. After positioning a percutaneous gastrostomy (PEG) and starting enteral administration of bicarbonates (with daily boluses and continuous nocturnal infusion), she finally obtained an adequate electrolyte control, with a significant increase in her quality of life.
CONCLUSIONS: In MDs, the combination of nocturnal continuous enteral administration of alkali plus diurnal boluses may represent a valid solution to correct metabolic acidosis. It can also result in an improved patients\' quality of life, particularly in pediatric settings, where compliance to oral therapy is often lacking due to the large and repeated amounts of unpalatable bicarbonates solutions required.
摘要：
背景：线粒体疾病（MD）是可以影响多个器官的全身性疾病。肾脏表现，包括肾小管酸中毒,很常见，因为肾脏特别容易受到能量剥夺的影响。MD的治疗通常很复杂，电解质更换可能很困难，特别是在儿科患者中。因为需要大量和重复的口服补充剂，但耐受性不佳。
方法：我们描述了一个患有Kearns-Sayre病并伴有严重肾小管酸中毒的女孩的案例。代谢性酸中毒的治疗具有挑战性，因为尽管口服碳酸氢盐逐渐增加，但她仍显示出血清碳酸氢盐的持续低水平。此外，由于摄入了大量的碱，这个女孩对口服补充剂产生了厌恶。在定位经皮胃造口术（PEG）并开始肠内施用碳酸氢盐（每日推注和连续夜间输注）后，她最终获得了足够的电解质控制，她的生活质量大大提高了。
结论：在MD中，夜间连续肠内给药碱加昼夜推注的组合可能是纠正代谢性酸中毒的有效解决方案。它还可以改善患者的生活质量，特别是在儿科环境中，由于需要大量和重复的令人不快的碳酸氢盐溶液，因此通常缺乏对口服治疗的依从性。
方法：我们描述了一个患有Kearns-Sayre病并伴有严重肾小管酸中毒的女孩的案例。代谢性酸中毒的治疗具有挑战性，因为尽管口服碳酸氢盐逐渐增加，但她仍显示出血清碳酸氢盐的持续低水平。此外，由于摄入了大量的碱，这个女孩对口服补充剂产生了厌恶。在定位经皮胃造口术（PEG）并开始肠内施用碳酸氢盐（每日推注和连续夜间输注）后，她最终获得了足够的电解质控制，她的生活质量大大提高了。
结论：在MD中，夜间连续肠内给药碱加昼夜推注的组合可能是纠正代谢性酸中毒的有效解决方案。它还可以改善患者的生活质量，特别是在儿科环境中，由于需要大量和重复的令人不快的碳酸氢盐溶液，因此通常缺乏对口服治疗的依从性。
