Département d'endocrinologie-diabète-nutrition, CHU d'Angers, 4 rue Larrey, Angers cedex 9, France.
Ann Endocrinol (Paris). 2010 Feb;71(1):46-50. doi: 10.1016/j.ando.2009.11.005. Epub 2009 Dec 22.
Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Most diagnoses of CF are made during infancy or childhood, and are based on respiratory or digestive involvement. Initial extracellular dehydration leading to the diagnosis of CF is usual in infants but has only exceptionally been reported in adults. We describe three new adult cases of CF initially presenting with depletive hyponatremia and hypochloremia following exposure to heat. At first consultation, these patients had no symptoms suggestive of CF. One patient presented with a seizure induced by hyponatremia. The two other patients were siblings carrying a novel c.4434insA mutation in exon 24 of CFTR. Acute dehydration is a very rare initial manifestation of CF but may be life-threatening. The possibility of CF should not be ignored in cases of depletive hyponatremia, hypochloremia or hypokalemic metabolic alkalosis, even in otherwise healthy patients.
囊性纤维化（CF）是由囊性纤维化跨膜电导调节因子（CFTR）基因突变引起的。大多数 CF 的诊断是在婴儿期或儿童期做出的，主要基于呼吸道或消化道的受累情况。最初的细胞外脱水导致 CF 的诊断在婴儿中很常见，但在成人中极为罕见。我们描述了三例新的成年 CF 病例，这些患者在暴露于高温后出现消耗性低钠血症和低氯血症。首次就诊时，这些患者没有 CF 的症状。其中一名患者因低钠血症引起癫痫发作。另外两名患者是携带 CFTR 外显子 24 中新 c.4434insA 突变的同胞。急性脱水是 CF 非常罕见的初始表现，但可能危及生命。即使在其他方面健康的患者中，也不应忽视消耗性低钠血症、低氯血症或低钾性代谢性碱中毒时 CF 的可能性。
