Shimakawa Urara, Shigehara Keiichi, Kawabe Yasuhiro, Ouchi Kazutaka, Mori Jun
Department of Pediatrics, Ayabe City Hospital, Ayabe, JPN.
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, JPN.
Cureus. 2020 Nov 29;12(11):e11763. doi: 10.7759/cureus.11763.
Classic salt-wasting 21-hydroxylase deficiency (21-OHD) often requires fludrocortisone (FC) replacement. However, the optimal dose of FC varies between patients and the dose needs to be adjusted depending on the degree of symptoms. Further, the aldosterone resistance due to urinary tract infections causes salt-wasting symptoms. We recently encountered a patient with 21-OHD who required up to 0.36 mg/day of FC in order to control hyperkalemia despite adequate hydrocortisone (HC) administration. This condition was presumed to be due to aldosterone resistance complications associated with urinary tract infections. Thus, if the initial treatment of 21-OHD with HC and FC is resistant, then one should consider complications that may cause aldosterone resistance, such as urinary tract infections.
典型失盐型21-羟化酶缺乏症（21-OHD）通常需要补充氟氢可的松（FC）。然而，FC的最佳剂量因患者而异，需要根据症状程度进行调整。此外，尿路感染引起的醛固酮抵抗会导致失盐症状。我们最近遇到一名21-OHD患者，尽管给予了足够的氢化可的松（HC），仍需要高达0.36毫克/天的FC来控制高钾血症。这种情况被推测是由于与尿路感染相关的醛固酮抵抗并发症所致。因此，如果用HC和FC对21-OHD进行初始治疗无效，那么应考虑可能导致醛固酮抵抗的并发症，如尿路感染。
