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Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia
Joint Authors
Attia, Najya A.
Marzouk, Yousef I.
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-01-19
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
Context.
Pseudohypoaldosteronism type 1 (PHA1) is a life-threatening disease that causes severe hyperkalemia and cardiac arrest if not treated appropriately or if diagnosis is missed.
Objective.
To report a case of a newborn with vomiting and lethargy, ultimately diagnosed with pseudohypoaldosteronism.
Patient.
This case presented to the ED at an age of 14 days in hypovolemic shock.
There was a family history of sudden infant death, her sister who was diagnosed with CAH and passed away at 3 months of age despite regular hormone replacement.
Our patient had cardiac arrest in ED, due to hyperkalemia; while receiving fluid boluses, cardiopulmonary resuscitation was initiated.
After stabilization, diagnostic workup demonstrated persistently low sodium, acidosis, and high potassium, which required peritoneal dialysis.
Based on these findings, the patient was diagnosed with CAH.
It turned out later that the patient had PHA1.
Two years later, the patient had a new sibling with the same disease diagnosed at birth and started immediately on treatment without any complication.
Conclusions and Outcome.
This case highlights the significant diagnostic and therapeutic challenges in treating children with PHA1.
Adrenal crisis is not always CAH; delayed diagnosis can lead to complication and even death.
The presence of high plasma renin activity, aldosterone, and cortisol, along with the presence of hyponatremia and hyperkalemia, established the diagnosis of PHA type 1 and ruled out CAH.
American Psychological Association (APA)
Attia, Najya A.& Marzouk, Yousef I.. 2016. Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia. Case Reports in Endocrinology،Vol. 2016, no. 2016, pp.1-3.
https://search.emarefa.net/detail/BIM-1100698
Modern Language Association (MLA)
Attia, Najya A.& Marzouk, Yousef I.. Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia. Case Reports in Endocrinology No. 2016 (2016), pp.1-3.
https://search.emarefa.net/detail/BIM-1100698
American Medical Association (AMA)
Attia, Najya A.& Marzouk, Yousef I.. Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia. Case Reports in Endocrinology. 2016. Vol. 2016, no. 2016, pp.1-3.
https://search.emarefa.net/detail/BIM-1100698
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1100698