Adachi Masanori, Nagahara Keiko, Ochi Ayako, Toyoda Junya, Muroya Koji, Mizuno Katsumi
Department of Pediatrics, Showa University School of Medicine, Shinagawa-ku, Tokyo, 142-8555, Japan.
Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama, Kanagawa, 232-8555, Japan.
J Endocr Soc. 2022 Sep 27;6(12):bvac147. doi: 10.1210/jendso/bvac147. eCollection 2022 Oct 26.
Pseudohypoaldosteronism type 1 (PHA1) has been treated as a genetic variant of type IV renal tubular acidosis (RTA), leading to the conception that PHA1 develops hyperchloremic acidosis with a normal anion gap (AG).
To delineate the acid-base imbalance in PHA1A (dominant type) and PHA1B (recessive type).
We conducted the following: (1) a retrospective chart review of our patient with PHA1B, and (2) a literature search of PHA1 cases focusing on acid-base balance. The main outcome measures were the incidence and nature of acidosis, including chloride levels and AG.
In our patient with PHA1B, 7 salt-wasting episodes were analyzed. Acidosis was ascertained each time, and it was accompanied by hypochloremia except in 1 episode. AG was elevated in 5 episodes, while hyperlacticaemia was present in 3. In the literature, 41 cases of PHA1A and 65 cases of PHA1B have been identified. During salt-wasting crises, acidosis developed in 85% of PHA1A cases and 87% of PHA1B cases. Hypochloremia was present in 69% of PHA1A cases with available data (n = 13) and 54% of eligible PHA1B cases (n = 13), with mean chloride levels of 96 mEq/L and 95 mEq/L, respectively. Increased AG was less frequently reported (14% in PHA1A and 44% in PHA1B).
Patients with PHA1 frequently presented with metabolic acidosis. However, hyperchloremia may not be a universal finding, whereas hypochloremia and increased AG may occur in a substantial proportion of the patients.
1型假性醛固酮减少症（PHA1）被视为IV型肾小管酸中毒（RTA）的一种基因变异，这使得人们认为PHA1会导致具有正常阴离子间隙（AG）的高氯性酸中毒。
明确PHA1A（显性型）和PHA1B（隐性型）中的酸碱失衡情况。
我们进行了以下操作：（1）对我们的PHA1B患者进行回顾性病历审查，以及（2）对关注酸碱平衡的PHA1病例进行文献检索。主要观察指标为酸中毒的发生率和性质，包括氯水平和AG。
在我们的PHA1B患者中，分析了7次失盐发作。每次均确定存在酸中毒，除1次发作外均伴有低氯血症。5次发作时AG升高，3次发作时存在高乳酸血症。在文献中，已鉴定出41例PHA1A病例和65例PHA1B病例。在失盐危机期间，85%的PHA1A病例和87%的PHA1B病例发生酸中毒。有可用数据的PHA1A病例（n = 13）中69%存在低氯血症，符合条件的PHA1B病例（n = 13）中54%存在低氯血症，平均氯水平分别为96 mEq/L和95 mEq/L。AG升高的报告较少（PHA1A中为14%，PHA1B中为44%）。
PHA1患者常出现代谢性酸中毒。然而，高氯血症可能并非普遍现象，而低氯血症和AG升高可能在相当比例的患者中出现。
