Pediatric Neurology & Intensive Care Unit, Assistance Publique des Hôpitaux de Paris, Hôpital Raymond-Poincaré, Garches, France; Pediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), HUB, Université Libre de Bruxelles, Belgique.
Pediatric Neurology & Intensive Care Unit, Assistance Publique des Hôpitaux de Paris, Hôpital Raymond-Poincaré, Garches, France; Simone Veil Health Science Center, Université Versailles SQY, Paris-Saclay, France.
Arch Pediatr. 2024 Oct;31(7):451-454. doi: 10.1016/j.arcped.2024.03.010. Epub 2024 Sep 26.
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease that progresses toward restrictive respiratory failure due to muscle paralysis. We observed that SMA patients presented with a specific clinical and laboratory profile, consisting of severe metabolic acidosis following an episode of mild vomiting. This is an unusual, little-known, and life-threatening situation for these patients, as hyperventilation induced by metabolic acidosis can lead to exhaustion and to death by mixed acidosis.
The aim of our study was to describe this paradoxical acidosis after vomiting in SMA patients and to discuss the physiological basis of this condition.
We conducted a retrospective single-center study reviewing the clinical and laboratory data of SMA patients who were hospitalized in the intensive care unit for severe metabolic acidosis after vomiting.
Our cohort comprised 11 cases. On arrival, the median pH of the patients was 7.23 with a median bicarbonate concentration of 11.7 mmol/L and almost half of them (45 %) had ketone bodies in the blood and/or urine. The median correction time was 24 h for pH and 48 h for bicarbonate concentrations after receiving intravenous hydration with a glucose solution.
We suggest that SMA patients are particularly sensitive to ketoacidosis induced by fasting, even after a few episodes of mild vomiting. Moreover, they have a low buffering capacity due to their severe amyotrophy, which favors metabolic acidosis. They must be quickly hydrated through a glucose-containing solution to avoid exhaustion, mixed acidosis, and death.
脊髓性肌萎缩症（SMA）是一种遗传性神经肌肉疾病，由于肌肉瘫痪，病情逐渐发展为限制性呼吸衰竭。我们观察到 SMA 患者表现出一种特定的临床和实验室特征，即在轻度呕吐发作后出现严重代谢性酸中毒。对于这些患者来说，这是一种不常见的、鲜为人知的、危及生命的情况，因为代谢性酸中毒引起的过度通气会导致衰竭，并因混合性酸中毒而死亡。
本研究旨在描述 SMA 患者呕吐后出现的这种反常性酸中毒，并讨论这种情况的生理基础。
我们进行了一项回顾性单中心研究，回顾了因呕吐导致严重代谢性酸中毒而入住重症监护病房的 SMA 患者的临床和实验室数据。
我们的队列包括 11 例患者。入院时，患者的 pH 值中位数为 7.23，碳酸氢盐浓度中位数为 11.7 mmol/L，近一半（45%）的患者血液和/或尿液中存在酮体。接受葡萄糖溶液静脉补液后，pH 值的中位校正时间为 24 小时，碳酸氢盐浓度的中位校正时间为 48 小时。
我们建议 SMA 患者对禁食引起的酮症酸中毒特别敏感，即使是在几次轻度呕吐后也是如此。此外，由于严重的肌萎缩，他们的缓冲能力较低，这有利于代谢性酸中毒的发生。他们必须通过含有葡萄糖的溶液快速补液，以避免衰竭、混合性酸中毒和死亡。
