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      Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia

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          Summary

          Neonatal hyperkalemia and hyponatremia are medical conditions that require an emergent diagnosis and treatment to avoid morbidity and mortality. Here, we describe the case of a 10-day-old female baby presenting with life-threatening hyperkalemia, hyponatremia, and metabolic acidosis diagnosed as autosomal dominant pseudohypoaldosteronism type 1 (PHA1). This report aims to recognize that PHA1 may present with a life-threatening arrhythmia due to severe hyperkalemia and describes the management of such cases in neonates.

          Learning points

          • PHA1 may present with a life-threatening arrhythmia.

          • Presentation of PHA can be confused with congenital adrenal hyperplasia.

          • Timing and appropriate medical management in the critical care unit prevented fatality from severe neonatal PHA.

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          Most cited references14

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          Clinical and Molecular Features of Type 1 Pseudohypoaldosteronism

          Felix Riepe (2009)
          Pseudohypoaldosteronism (PHA) is a rare heterogeneous syndrome of mineralocorticoid resistance causing insufficient potassium and hydrogen secretion. PHA type 1 (PHA1) causes neonatal salt loss, failure to thrive, dehydration and circulatory shock. Two different forms of PHA1 can be distinguished on the clinical and genetic level, showing either a systemic or a renal form of mineralocorticoid resistance. This review provides an overview on transepithelial sodium reabsorption and on clinical features and the underlying molecular pathology of systemic and renal PHA1 caused by mutations in the subunit genes (SCNN1A , SCNN1B , SCNN1G) of the epithelial sodium channel (ENaC) and the mineralocorticoid receptor coding gene NR3C2 . The in vitro investigation of several mutants has resulted in important progress in the understanding of the physiology of ENaC and the mineralocorticoid receptor. Some mutations are discussed in more detail to demonstrate some of these findings. A better clinical work-up of the patients suffering from PHA1 may delineate additional associations between the genotype and phenotype in the future.
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            Mechanisms of type I and type II pseudohypoaldosteronism.

            Seth B Furgeson, Stuart Linas (2010)
            Pseudohypoaldosteronism (PHA) types I and II are curious genetic disorders that share hyperkalemia as a predominant finding. Together they have become windows to understanding new molecular physiology in the kidney. Autosomal recessive PHAI results from mutations in the epithelial sodium channel (ENaC), whereas autosomal dominant PHAI is characterized by mutations in the mineralocorticoid receptor. PHAII is the result of mutations in a family of serine-threonine kinases called with-no-lysine kinases (WNK)1 and WNK4. WNK4 negatively regulates the NaCl cotransporter (NCC), and PHAII mutations in WNK4 abrogate this affect. WNK4 also regulates the expression or function of renal outer medullary potassium (ROMK) channels, ENaCs, and Cl transporters. WNK1 also regulates NCC and ROMK. Aldosterone inactivates WNK1 and WNK4 activity. Whether angiotensin II can fine tune the actions of aldosterone is still unclear.
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              Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults.

              Junhui Zhang, Sandra Janssens, Daniel Metzger … (2006)
              Autosomal dominant pseudohypoaldosteronism type 1 (adPHA1) is a rare condition that is characterized by renal resistance to aldosterone, with salt wasting, hyperkalemia, and metabolic acidosis. It is thought of as a mild disorder; affected children's symptoms respond promptly to salt therapy, and treatment is not required after childhood. Mutations in the mineralocorticoid receptor gene (MR) cause adPHA1, but the long-term consequences of MR deficiency in humans are not known. Herein are described six novel adPHA1-causing MR mutations (four de novo) and evidence that haploinsufficiency of MR is sufficient to cause adPHA1. Furthermore, genotype-phenotype correlation is reported in a large adPHA1 kindred. A number of cases of neonatal mortality in infants who were at risk for adPHA1 were identified; coupled with the frequent identification of de novo mutations in affected individuals, this suggests that the seemingly benign adPHA1 may have been a fatal neonatal disorder in previous eras, preventing propagation of disease alleles. In contrast, it is shown that adult patients with adPHA1 are clinically indistinguishable from their wild-type relatives except for presumably lifelong elevation of renin, angiotensin II, and aldosterone levels. These data highlight the critical role of MR in the maintenance of salt homeostasis early in life and illuminate the sodium dependence of pathologic effects of renin and angiotensin II. They furthermore argue that nongenomic effects of aldosterone play no significant role in the long-term development of cardiovascular disease.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Endocrinol Diabetes Metab Case Rep
                Journal ID (iso-abbrev): Endocrinol Diabetes Metab Case Rep
                Journal ID (pmc): edm
                Journal ID (publisher-id): EDM Case Reports
                Title: Endocrinology, Diabetes & Metabolism Case Reports
                Publisher: Bioscientifica Ltd (Bristol )
                ISSN (Electronic): 2052-0573
                Publication date (Electronic): 01 March 2014
                Publication date (Print): 2014
                Volume: 2014
                Electronic Location Identifier: 130077
                Affiliations
                [1]College of Medicine, American University of Antigua Antigua
                [1 ]Pediatric Intensive Care, Miller Children's Hospital Long Beach, CaliforniaUSA
                [2 ]Children Hospital of Orange County 1201 W. La Veta Ave, Orange, California 92868USA
                Author notes
                Correspondence should be addressed to A Bhangoo Email: drapsbhangoo@ 123456yahoo.com
                Article
                Publisher ID: EDM130077
                DOI: 10.1530/EDM-13-0077
                PMC ID: 3969520
                PubMed ID: 24688761
                SO-VID: 96d5454e-4151-4781-9cfe-bd630fcf5498
                Copyright © © 2014 The authors
                License:

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.

                History
                Date received : 14 February 2014
                Date accepted : 4 March 2014
                Categories
                Subject: Unique/Unexpected Symptoms or Presentations of a Disease

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