A mysterious case with abdominal pain and syndrome of inappropriate anti-diuretic hormone secretion
Background. Acute intermittent porphyria (AIP) is a rare, hereditary, metabolic disease caused by a defect in heme biosynthesis. Hormonal changes may trigger porphyria attacks. Case. Here we present a 17 -year- old adolescent refugee mother who applied to the pediatric emergency depart...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2020-06-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/471 |
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| author | Özlem Yüksel Aksoy Mehmet Gündüz Özlem Ünal Funda Bostancı Fatma Şemsa Çaycı Umut Selda Bayrakcı |
| author_facet | Özlem Yüksel Aksoy Mehmet Gündüz Özlem Ünal Funda Bostancı Fatma Şemsa Çaycı Umut Selda Bayrakcı |
| author_sort | Özlem Yüksel Aksoy |
| collection | DOAJ |
| description |
Background. Acute intermittent porphyria (AIP) is a rare, hereditary, metabolic disease caused by a defect in heme biosynthesis. Hormonal changes may trigger porphyria attacks.
Case. Here we present a 17 -year- old adolescent refugee mother who applied to the pediatric emergency department with the complaint of diffuse abdominal pain at puerperium. The patient was hypertensive, and had convulsions after admission. Hyponatremia (serum sodium; 121 meq/L) was detected, and syndrome of inappropriate anti-diuretic hormone secretion (SIADH) was found to be the cause of hyponatremia which responded well to fluid restriction. Infectious, autoimmune and toxicologic laboratory work-up did not reveal any specific pathologies. Despite prompt utilization of analgesic treatment, the patient continued to have unbearable abdominal pain. The preference of prone position to relieve the pain and the family history of a mother who had died with similar symptoms, led us to the diagnosis of AIP. Genetic analysis showed a heterozygous mutation in hydroxymethylbilane synthase (HMBS) gene (c160+6T > A) which confirmed our diagnosis.
Conclusion. Acute porphyrias should be considered in differential diagnosis of abdominal pain, especially when there are accompanying symptoms like hyponatremia, seizures, mental changes and hypertension.
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| format | Article |
| id | doaj-art-bb4458c948eb417e8ee4fc98d0f23347 |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2020-06-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-bb4458c948eb417e8ee4fc98d0f233472025-08-20T02:01:54ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212020-06-0162310.24953/turkjped.2020.03.018A mysterious case with abdominal pain and syndrome of inappropriate anti-diuretic hormone secretionÖzlem Yüksel Aksoy0Mehmet Gündüz1Özlem Ünal2Funda Bostancı3Fatma Şemsa Çaycı4Umut Selda Bayrakcı5Divisions of Pediatric Nephrology, University of Health Sciences, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Ankara, Turkey.Divisions of Pediatric Metabolism and Nutrition, University of Health Sciences, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Ankara, Turkey.Divisions of Pediatric Metabolism and Nutrition, University of Health Sciences, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Ankara, Turkey.Department of Pediatrics, University of Health Sciences, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Ankara, Turkey.Divisions of Pediatric Nephrology, University of Health Sciences, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Ankara, Turkey.Divisions of Pediatric Nephrology, University of Health Sciences, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Ankara, Turkey. Background. Acute intermittent porphyria (AIP) is a rare, hereditary, metabolic disease caused by a defect in heme biosynthesis. Hormonal changes may trigger porphyria attacks. Case. Here we present a 17 -year- old adolescent refugee mother who applied to the pediatric emergency department with the complaint of diffuse abdominal pain at puerperium. The patient was hypertensive, and had convulsions after admission. Hyponatremia (serum sodium; 121 meq/L) was detected, and syndrome of inappropriate anti-diuretic hormone secretion (SIADH) was found to be the cause of hyponatremia which responded well to fluid restriction. Infectious, autoimmune and toxicologic laboratory work-up did not reveal any specific pathologies. Despite prompt utilization of analgesic treatment, the patient continued to have unbearable abdominal pain. The preference of prone position to relieve the pain and the family history of a mother who had died with similar symptoms, led us to the diagnosis of AIP. Genetic analysis showed a heterozygous mutation in hydroxymethylbilane synthase (HMBS) gene (c160+6T > A) which confirmed our diagnosis. Conclusion. Acute porphyrias should be considered in differential diagnosis of abdominal pain, especially when there are accompanying symptoms like hyponatremia, seizures, mental changes and hypertension. https://turkjpediatr.org/article/view/471SIADHabdominal painacute intermittent porphyria |
| spellingShingle | Özlem Yüksel Aksoy Mehmet Gündüz Özlem Ünal Funda Bostancı Fatma Şemsa Çaycı Umut Selda Bayrakcı A mysterious case with abdominal pain and syndrome of inappropriate anti-diuretic hormone secretion The Turkish Journal of Pediatrics SIADH abdominal pain acute intermittent porphyria |
| title | A mysterious case with abdominal pain and syndrome of inappropriate anti-diuretic hormone secretion |
| title_full | A mysterious case with abdominal pain and syndrome of inappropriate anti-diuretic hormone secretion |
| title_fullStr | A mysterious case with abdominal pain and syndrome of inappropriate anti-diuretic hormone secretion |
| title_full_unstemmed | A mysterious case with abdominal pain and syndrome of inappropriate anti-diuretic hormone secretion |
| title_short | A mysterious case with abdominal pain and syndrome of inappropriate anti-diuretic hormone secretion |
| title_sort | mysterious case with abdominal pain and syndrome of inappropriate anti diuretic hormone secretion |
| topic | SIADH abdominal pain acute intermittent porphyria |
| url | https://turkjpediatr.org/article/view/471 |
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