Hyperkalaemic acidosis: blood pressure is the diagnostic clue

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.

Authors

Institutions

Publication Details

Journal
Pediatric Nephrology
Published
2024-11-11
DOI
https://doi.org/10.1007/s00467-024-06590-4
Citations
2
Primary Topic
Renal function and acid-base balance
Type
article
Field-Weighted Citation Impact
0.68

Funders

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Hyperkalaemic acidosis: blood pressure is the diagnostic clue

Zdenĕk Šumnı́k, Detlef Böckenhauer, Jakub Zieg, Malgorzata Libik et al.
2 citations
Pediatric Nephrology
Renal function and acid-base balance
0.68
article

Hyperkalaemic acidosis: blood pressure is the diagnostic clue

Zdenĕk Šumnı́k, Detlef Böckenhauer, Jakub Zieg, Malgorzata Libik, Dana Thomasová
article en
2 citations

Abstract

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.

Pediatric NephrologyVol. 40(4)
Charles University (CZ), Great Ormond Street Hospital (GB), University Hospital in Motol (CZ), University College London (GB), KU Leuven (BE)
Univerzita Karlova v Praze, Ministerstvo Zdravotnictví Ceské Republiky
Good health and well-being
Openalex Percentile: Top 26%
Renal function and acid-base balance
0.68
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.