Acid-Base Imbalance in Pseudohypoaldosteronism Type 1 in Comparison With Type IV Renal Tubular Acidosis.
J Endocr Soc
; 6(12): bvac147, 2022 Oct 26.
Article
in En
| MEDLINE
| ID: mdl-36320629
ABSTRACT
Context 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). Objective:
To delineate the acid-base imbalance in PHA1A (dominant type) and PHA1B (recessive type).Methods:
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.Results:
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 96â mEq/L and 95â mEq/L, respectively. Increased AG was less frequently reported (14% in PHA1A and 44% in PHA1B).Conclusions:
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Type of study:
Prognostic_studies
Language:
En
Journal:
J Endocr Soc
Year:
2022
Document type:
Article
Affiliation country:
Japan