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      Critical Points in the Management of Pseudohypoaldosteronism Type 1

      case-report

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          Abstract

          Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport. Affected patients develop life-threatening neonatal-onset salt loss, hyperkalemia, acidosis, and elevated aldosterone levels due to end-organ resistance to aldosterone. In this report, we present a patient diagnosed as PHA-1 who had clinical and laboratory findings compatible with the diagnosis and had genetically proven autosomal recessive PHA-1. The patient received high doses of sodium supplementation and potassium-lowering therapies; however, several difficulties were encountered in the management of this case. The aim of this presentation was to point out the potential pitfalls in the treatment of such patients in the clinical practice and to recommend solutions.

          Conflict of interest:None declared.

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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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            Pustular miliaria rubra: a specific cutaneous finding of type I pseudohypoaldosteronism.

            Amy Urbatsch, Amy Paller (2015)
            Type I pseudohypoaldosteronism, an autosomal recessive, life-threatening disorder of mineralocorticoid resistance leads to excessive loss of sodium chloride through eccrine and other secretions. Recurrent episodes of pustular miliaria rubra are associated with salt-losing crises and clear spontaneously with stabilization. Inflammation of and around the damaged eccrine glands has been attributed to the deleterious effects of excessive eccrine gland salt exposure.
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              Nephrocalcinosis in pseudohypoaldosteronism and the effect of indomethacin therapy.

              H Shalev, M Ohali, O Abramson (1994)
              We report four patients with pseudohypoaldosteronism, aged 5 months to 5 years. All patients had hypercalciuria and three had nephrocalcinosis. Two patients with nephrocalcinosis were treated with indomethacin. Polydipsia decreased and appetite and weight gain improved within 14 days of therapy. Hypercalciuria, polyuria, and creatinine clearance decreased 30% to 50% and urinary prostaglandin E2 levels decreased fourfold to eightfold.
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Clin Res Pediatr Endocrinol
                Journal ID (publisher-id): JCRPE
                Title: Journal of Clinical Research in Pediatric Endocrinology
                Publisher: Galenos Publishing
                ISSN (Print): 1308-5727
                ISSN (Electronic): 1308-5735
                Publication date (Print): June 2011
                Publication date (Electronic): 8 June 2011
                Volume: 3
                Issue: 2
                Pages: 98-100
                Affiliations
                [1 ] Zeynep Kamil Maternity and Childrens’ Diseases Training and Research Hospital, Division of Pediatric Endocrinology and Diabetes, Istanbul, Turkey
                [2 ] Sisli Etfal Training and Research Hospital, Division of Neonatal Intensive Care Unit, Istanbul, Turkey
                [3 ] Zeynep Kamil Maternity and Childrens’ Diseases Training and Research Hospital, Division of Pediatric Nephrology, Istanbul, Turkey
                [4 ] Zeynep Kamil Maternity and Childrens’ Diseases Training and Research Hospital, Division of Neonatal Intensive Care Unit, Istanbul, Turkey
                [5 ] Christian-Albrechts University, Division of Pediatric Endocrinology and Diabetes, Kiel, Germany
                Article
                Publisher Item ID: 105
                DOI: 10.4274/jcrpe.v3i2.20
                PMC ID: 3119449
                PubMed ID: 21750640
                SO-VID: 1bb015a0-b828-4003-a8ba-ec7f2bfbeac8
                Copyright © © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing.
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 9 March 2011
                Date accepted : 2 May 2011
                Categories
                Subject: Case Reports

                ScienceOpen disciplines: Pediatrics
                Keywords: pseudohypoaldosteronism type 1,treatment,pitfalls
                Data availability:
                ScienceOpen disciplines: Pediatrics
                Keywords: pseudohypoaldosteronism type 1, treatment, pitfalls

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