Persistent mild hypercalcaemia in an infant with pseudohypoaldosteronism and the diagnostic challenges faced
- PMID: 39298094
- DOI: 10.1007/s40620-024-02082-8
Persistent mild hypercalcaemia in an infant with pseudohypoaldosteronism and the diagnostic challenges faced
Keywords: Copy number variant; Hypercalcaemia; Pseudohypoaldosteronism; Salt-wasting crisis; Urinary Tract Infection.
Conflict of interest statement
Declarations. Conflict of interest: There are no conflicts of interest to declare. Ethical approval: This case report was approved by Mater Dei Hospital Data Protection Office, Legal Office, and CEO. Human and animal rights: This article does not contain any studies with human participants or animals, however the production of this article, and the data used was handled in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments, by all the authors. Informed consent: The parents agreed to publish their child’s case for educational purposes.
References
-
- Bizzarri C, Pedicelli S, Cappa M, Cianfarani S (2016) Water balance and ‘Salt Wasting’ in the first year of life: the role of aldosterone-signaling defects. Horm Res Paediatr 86(3):143–153. https://doi.org/10.1159/000449057 - DOI - PubMed
-
- Hoen LA, Bogaert G, Radmayr C, Dogan HS, Nijman RJM, Quaedackers J, Rawashdeh Y, Silay MS, Tekgul S, Bhatt NR, Stein R (2021) Update of the EAU/ESPU guidelines on urinary tract infections in children. J Pediatr Urol 17(2):200–207. https://doi.org/10.1016/j.jpurol.2021.01.037 - DOI - PubMed
-
- Saeed Babar G, Tariq M (2022) Challenges of diagnosing pseudohypoaldosteronism (PHA) in an infant. Case Rep Endocrinol. https://doi.org/10.1155/2022/9921003 - DOI
-
- Lietman SA, Germain-Lee EL, Levine MA (2010) Hypercalcemia in children and adolescents. Curr Opin Pediatr 22(4):508–515. https://doi.org/10.1097/MOP.0b013e32833b7c23 - DOI - PubMed - PMC
-
- Casas-Alba D, Vila Cots J, Monfort Carretero L, Martorell Sampol L, Zennaro MC, Jeunemaitre X, Camacho Diaz JAC (2017) Pseudohypoaldosteronism types I and II: little more than a name in common. J Pediatr Endocrinol Metab 30(5):597–601. https://doi.org/10.1515/jpem-2016-0467 - DOI - PubMed
LinkOut - more resources
Full Text Sources
