Cutaneous and Ocular Findings in Systemic Pseudohypoaldosteronism I: Early Clinical Pointers
Systemic Pseudohypoaldosteronism type I (PHA I) is an uncommon and an often missed cause of salt wasting crisis in the neonatal period. In addition to dyselectrolytemia, cutaneous findings in the form of miliaria rubra, and ophthalmic findings secondary to abnormal sebum accumulation in the eye ma...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Pvt. Ltd.
2022-03-01
|
| Series: | Indian Journal of Neonatal Medicine and Research |
| Subjects: | |
| Online Access: | https://www.ijnmr.net/articles/PDF/2324/50253_CE[Ra1]_F(SHU)_PF1(AKA_SHU)_PFA(SHU)_PN(SHU).pdf |
| _version_ | 1811250048644677632 |
|---|---|
| author | Neha Agarwal Alpa Gupta Renu Dhasmana Ashima Mehta Nitika Agrawal |
| author_facet | Neha Agarwal Alpa Gupta Renu Dhasmana Ashima Mehta Nitika Agrawal |
| author_sort | Neha Agarwal |
| collection | DOAJ |
| description | Systemic Pseudohypoaldosteronism type I (PHA I) is an uncommon and an often missed cause of salt wasting crisis in the neonatal
period. In addition to dyselectrolytemia, cutaneous findings in the form of miliaria rubra, and ophthalmic findings secondary to
abnormal sebum accumulation in the eye may also be present in patients with systemic PHA I. This article is about systemic PHA
in a female neonate (birth weight 2.040 Kg, delivered at 34 weeks of gestation), who presented with life-threatening hyperkalemia,
along with characteristic cutaneous and ophthalmic manifestations. Normal female genitalia, history of hyperkalemia with similar
cutaneous and ophthalmic manifestations leading to death in the previous sibling, provided clue to the diagnosis. All relevant
investigations were performed. Blood chemistry in this neonate revealed hyponatremia and hyperkalemia with metabolic acidosis.
Plasma renin and serum aldosterone levels were reportedly high. Neonate was followed and electrolytes were monitored twice
weekly on outpatient basis. But the life-threatening hyperkalemia led to multiple episodes of vomiting and, refusal to feed for few
hours and the baby succumbed to death at age of 2.5 months. Hence, it was concluded that systemic PHA I should be considered
in the differential diagnosis of neonates presenting with hyponatremic dehydration, hyperkalemia, and metabolic acidosis. Timely
and appropriate electrolyte correction is pivotal for favourable outcome. |
| first_indexed | 2024-04-12T15:58:22Z |
| format | Article |
| id | doaj.art-73f58d37a7fc4a34bca6a9de908046ee |
| institution | Directory Open Access Journal |
| issn | 2277-8527 2455-6890 |
| language | English |
| last_indexed | 2024-04-12T15:58:22Z |
| publishDate | 2022-03-01 |
| publisher | JCDR Research and Publications Pvt. Ltd. |
| record_format | Article |
| series | Indian Journal of Neonatal Medicine and Research |
| spelling | doaj.art-73f58d37a7fc4a34bca6a9de908046ee2022-12-22T03:26:17ZengJCDR Research and Publications Pvt. Ltd.Indian Journal of Neonatal Medicine and Research2277-85272455-68902022-03-011001040610.7860/IJNMR/2022/50253.2324Cutaneous and Ocular Findings in Systemic Pseudohypoaldosteronism I: Early Clinical PointersNeha Agarwal0Alpa Gupta1Renu Dhasmana2Ashima Mehta3Nitika Agrawal4Senior Resident, Department of Paediatrics, Himalayan Institute of Medical Sciences, Rishikesh, Uttarakhand, India.Professor and Head, Department of Paediatrics, Himalayan Institute of Medical Sciences, Rishikesh, Uttarakhand, India.Professor and Head, Department of Ophthalmology, Himalayan Institute of Medical Sciences, Dehradun, Uttarakhand, IndiaJunior Resident, Department of Paediatrics, Himalayan Institute of Medical Sciences, Dehradun, Uttarakhand, India.Associate Professor, Department of Paediatrics, Himalayan Institute of Medical Sciences, Rishikesh, Uttarakhand, India.Systemic Pseudohypoaldosteronism type I (PHA I) is an uncommon and an often missed cause of salt wasting crisis in the neonatal period. In addition to dyselectrolytemia, cutaneous findings in the form of miliaria rubra, and ophthalmic findings secondary to abnormal sebum accumulation in the eye may also be present in patients with systemic PHA I. This article is about systemic PHA in a female neonate (birth weight 2.040 Kg, delivered at 34 weeks of gestation), who presented with life-threatening hyperkalemia, along with characteristic cutaneous and ophthalmic manifestations. Normal female genitalia, history of hyperkalemia with similar cutaneous and ophthalmic manifestations leading to death in the previous sibling, provided clue to the diagnosis. All relevant investigations were performed. Blood chemistry in this neonate revealed hyponatremia and hyperkalemia with metabolic acidosis. Plasma renin and serum aldosterone levels were reportedly high. Neonate was followed and electrolytes were monitored twice weekly on outpatient basis. But the life-threatening hyperkalemia led to multiple episodes of vomiting and, refusal to feed for few hours and the baby succumbed to death at age of 2.5 months. Hence, it was concluded that systemic PHA I should be considered in the differential diagnosis of neonates presenting with hyponatremic dehydration, hyperkalemia, and metabolic acidosis. Timely and appropriate electrolyte correction is pivotal for favourable outcome.https://www.ijnmr.net/articles/PDF/2324/50253_CE[Ra1]_F(SHU)_PF1(AKA_SHU)_PFA(SHU)_PN(SHU).pdfhyperkalemianeonatesalt wasting crisis |
| spellingShingle | Neha Agarwal Alpa Gupta Renu Dhasmana Ashima Mehta Nitika Agrawal Cutaneous and Ocular Findings in Systemic Pseudohypoaldosteronism I: Early Clinical Pointers Indian Journal of Neonatal Medicine and Research hyperkalemia neonate salt wasting crisis |
| title | Cutaneous and Ocular Findings in Systemic Pseudohypoaldosteronism I: Early Clinical Pointers |
| title_full | Cutaneous and Ocular Findings in Systemic Pseudohypoaldosteronism I: Early Clinical Pointers |
| title_fullStr | Cutaneous and Ocular Findings in Systemic Pseudohypoaldosteronism I: Early Clinical Pointers |
| title_full_unstemmed | Cutaneous and Ocular Findings in Systemic Pseudohypoaldosteronism I: Early Clinical Pointers |
| title_short | Cutaneous and Ocular Findings in Systemic Pseudohypoaldosteronism I: Early Clinical Pointers |
| title_sort | cutaneous and ocular findings in systemic pseudohypoaldosteronism i early clinical pointers |
| topic | hyperkalemia neonate salt wasting crisis |
| url | https://www.ijnmr.net/articles/PDF/2324/50253_CE[Ra1]_F(SHU)_PF1(AKA_SHU)_PFA(SHU)_PN(SHU).pdf |
| work_keys_str_mv | AT nehaagarwal cutaneousandocularfindingsinsystemicpseudohypoaldosteronismiearlyclinicalpointers AT alpagupta cutaneousandocularfindingsinsystemicpseudohypoaldosteronismiearlyclinicalpointers AT renudhasmana cutaneousandocularfindingsinsystemicpseudohypoaldosteronismiearlyclinicalpointers AT ashimamehta cutaneousandocularfindingsinsystemicpseudohypoaldosteronismiearlyclinicalpointers AT nitikaagrawal cutaneousandocularfindingsinsystemicpseudohypoaldosteronismiearlyclinicalpointers |