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Case Report
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| Sporadic pseudohypoaldosteronism: A challenging diagnosis | ||||||
| Suman Preet Kaur Bhullar1, Raouf Seifeldin2, Nikhil Hemady3 | ||||||
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1Resident, Department of Family Medicine, Doctors' Hospital of Michigan, Pontiac, MI, USA.
2Associate Program Director, Department of Family Medicine, Doctors' Hospital of Michigan, Pontiac, MI, USA. 3Program Director, Department of Family Medicine, Doctors' Hospital of Michigan, Pontiac, MI, USA. | ||||||
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| How to cite this article: |
| Bhullar SPK, Seifeldin R, Hemady N. Sporadic pseudohypoaldosteronism: A challenging diagnosis. International Journal of Case Reports and Images 2013;4(1):15–18. |
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Abstract
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Introduction:
Pseudohypoaldosteronism (PHA) is a rare form of salt-wasting syndrome, caused by peripheral resistance to aldosterone. PHA is of three types: PHA type 1, 2, 3. Pseudohypoaldosteronism type 1 (PHA1) is further differentiated into, (i) hereditary forms, autosomal recessive and dominant, which are caused by epithelial sodium channel and mineralocorticoid receptor mutations respectively and (ii) secondary form which is associated with urological problems.
Case Report: We present a case of a male infant who presented with failure to thrive, vomiting, mild dehydration and reflux. Evaluation revealed hyperkalemia with normal glucose and carbon dioxide levels. A preliminary diagnosis of CAH (congenital adrenal hyperplasia) was made. Further workup showed high serum aldosterone and renin levels with normal renal and adrenocortical functions. In line with the investigations the diagnosis of pseudohypoaldosteronism was made. The patient was treated with sodium supplementation, which normalized his clinical state and serum electrolytes. Follow-up revealed weight gain and improved status. Conclusion: Diagnosis of PHA1 is based on plasma electrolyte assessment, elevated renin activity and aldosterone levels with normal renal function. PHA1 results from a renal or systemic resistance to aldosterone. In our reported patient we suspected a renal form of PHA1, which is a milder form and responded well to treatment with salt supplements. Infants who present with electrolyte imbalance like hyperkalemia, hyponatremia and weight loss should be evaluated for adrenocortical function and need careful management. Though PHA is a group of rare syndromes, a high degree of suspicion along with extensive laboratory workup should be pursued in cases with electrolyte imbalances. | |
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Keywords:
Pseudohypoaldosteronism, Congenital Adrenal Hyperplasia, Aldosterone
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Author Contributions:
Suman Preet Kaur Bhullar – Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published Rauf Seifeldin – Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article Nikhil Hemady – Drafting the article, Critical revision of the article, Final approval of the version to be published |
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Guarantor of submission:
The corresponding author is the guarantor of submission. |
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Source of support:
None |
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Conflict of interest:
Authors declare no conflict of interest. |
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Copyright:
© Suman Preet Kaur Bhullar et al. 2013; This article is distributed the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any means provided the original authors and original publisher are properly credited. (Please see Copyright Policy for more information.) |
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