Acute intermittent porphyria: A rare cause of hyponatraemia
Introduction: Hyponatraemia is one of the most frequent laboratory findings in hospitalised patients. We present an unusual case of hyponatraemia in a 23-year-old female secondary to acute intermittent porphyria (AIP), a rare inborn error of metabolism. Case Report: The patient presented with upper...
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| Format: | Article |
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College of Pathologists, Academy of Medicine Malaysia
2019
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| author | Mohamed Zainuddin, Nadiah Sthaneshwar, Pavai Vethakkan, Shireene Ratna |
| author_facet | Mohamed Zainuddin, Nadiah Sthaneshwar, Pavai Vethakkan, Shireene Ratna |
| author_sort | Mohamed Zainuddin, Nadiah |
| collection | UM |
| description | Introduction: Hyponatraemia is one of the most frequent laboratory findings in hospitalised patients. We present an unusual case of hyponatraemia in a 23-year-old female secondary to acute intermittent porphyria (AIP), a rare inborn error of metabolism. Case Report: The patient presented with upper respiratory tract infection, fever, seizures and abdominal pain. An initial diagnosis of encephalitis was made. In view of the unexplained abdominal pain with other clinical findings such as posterior reversible encephalopathy syndrome by CT brain, temporary blindness as well as hyponatraemia, acute intermittent porphyria was suspected. Urine delta aminolaevulinic acid (δ-ALA) and porphobilinogen were elevated confirming the diagnosis of AIP. Genetic studies were done for this patient. The patient had a complete resolution of her symptoms with carbohydrate loading and high caloric diet. Conclusion: Although rare, AIP should be considered as a cause of hyponatraemia in a patient who presents with signs and/or symptoms that are characteristic of this disease. © 2019, Malaysian Society of Pathologists. All rights reserved. |
| first_indexed | 2024-03-06T06:01:31Z |
| format | Article |
| id | um.eprints-24003 |
| institution | Universiti Malaya |
| last_indexed | 2024-03-06T06:01:31Z |
| publishDate | 2019 |
| publisher | College of Pathologists, Academy of Medicine Malaysia |
| record_format | dspace |
| spelling | um.eprints-240032020-03-11T03:32:43Z http://eprints.um.edu.my/24003/ Acute intermittent porphyria: A rare cause of hyponatraemia Mohamed Zainuddin, Nadiah Sthaneshwar, Pavai Vethakkan, Shireene Ratna R Medicine Introduction: Hyponatraemia is one of the most frequent laboratory findings in hospitalised patients. We present an unusual case of hyponatraemia in a 23-year-old female secondary to acute intermittent porphyria (AIP), a rare inborn error of metabolism. Case Report: The patient presented with upper respiratory tract infection, fever, seizures and abdominal pain. An initial diagnosis of encephalitis was made. In view of the unexplained abdominal pain with other clinical findings such as posterior reversible encephalopathy syndrome by CT brain, temporary blindness as well as hyponatraemia, acute intermittent porphyria was suspected. Urine delta aminolaevulinic acid (δ-ALA) and porphobilinogen were elevated confirming the diagnosis of AIP. Genetic studies were done for this patient. The patient had a complete resolution of her symptoms with carbohydrate loading and high caloric diet. Conclusion: Although rare, AIP should be considered as a cause of hyponatraemia in a patient who presents with signs and/or symptoms that are characteristic of this disease. © 2019, Malaysian Society of Pathologists. All rights reserved. College of Pathologists, Academy of Medicine Malaysia 2019 Article PeerReviewed Mohamed Zainuddin, Nadiah and Sthaneshwar, Pavai and Vethakkan, Shireene Ratna (2019) Acute intermittent porphyria: A rare cause of hyponatraemia. The Malaysian Journal of Pathology, 41 (3). pp. 369-372. ISSN 0126-8635, http://www.mjpath.org.my/2019/v41n3/hyponatraemia.pdf |
| spellingShingle | R Medicine Mohamed Zainuddin, Nadiah Sthaneshwar, Pavai Vethakkan, Shireene Ratna Acute intermittent porphyria: A rare cause of hyponatraemia |
| title | Acute intermittent porphyria: A rare cause of hyponatraemia |
| title_full | Acute intermittent porphyria: A rare cause of hyponatraemia |
| title_fullStr | Acute intermittent porphyria: A rare cause of hyponatraemia |
| title_full_unstemmed | Acute intermittent porphyria: A rare cause of hyponatraemia |
| title_short | Acute intermittent porphyria: A rare cause of hyponatraemia |
| title_sort | acute intermittent porphyria a rare cause of hyponatraemia |
| topic | R Medicine |
| work_keys_str_mv | AT mohamedzainuddinnadiah acuteintermittentporphyriaararecauseofhyponatraemia AT sthaneshwarpavai acuteintermittentporphyriaararecauseofhyponatraemia AT vethakkanshireeneratna acuteintermittentporphyriaararecauseofhyponatraemia |