Hyperkalaemic acidosis: blood pressure is the diagnostic clue
Language English Country Germany Media print-electronic
Document type Journal Article, Case Reports
Grant support
00064203
Ministerstvo Zdravotnictví Ceské Republiky
PubMed
39527282
PubMed Central
PMC11885314
DOI
10.1007/s00467-024-06590-4
PII: 10.1007/s00467-024-06590-4
Knihovny.cz E-resources
- Keywords
- Gordon syndrome, Hyporeninemic hypertension, Pseudohypoaldosteronism type 2, Thiazides,
- MeSH
- Acidosis * diagnosis etiology MeSH
- Child MeSH
- Fludrocortisone therapeutic use MeSH
- Hyperkalemia * diagnosis etiology MeSH
- Hypertension * etiology drug therapy diagnosis MeSH
- Blood Pressure * drug effects MeSH
- Humans MeSH
- Pseudohypoaldosteronism * diagnosis complications drug therapy genetics physiopathology MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- Fludrocortisone MeSH
Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited condition of altered tubular salt handling. It is characterized by the specific constellation of hyperkalaemic hyporeninemic hypertension, hyperchloremic metabolic acidosis and hypercalciuria. Molecular genetic testing confirms the diagnosis in the majority of cases. Thiazides constitute effective treatment. Due to its rarity, the diagnosis is often delayed. We here present two children with PHA2, who were initially treated with fludrocortisone and bicarbonate complicated mainly by exacerbation of their hypertension. Discontinuation of their previous therapy and commencement of thiazide diuretics led to normalisation of their blood pressure and electrolyte and acid-base status.
See more in PubMed
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