Acute intermittent porphyria after right hemi-colectomy
| Autor: | Abdulmohsen A. Al-Mulhim, Ahmed Eldamati, Norah Alwakeel, Khaldoon A Saleh, Reem Al Dulaijan, Hazem M Zakaria, Shadi Alshammary |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pediatrics Abdominal pain Hemi-colectomy Porphobilinogen deaminase medicine.medical_treatment Article 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Internal medicine Porphobilinogen medicine Acute intermittent porphyria 030212 general & internal medicine skin and connective tissue diseases Hydroxyrmethylbilane synthase Heterozygous mutation Colectomy Mechanical ventilation Porphobilinogen deaminase enzyme business.industry nutritional and metabolic diseases medicine.disease Calorie intake Endocrinology chemistry Surgery Hyponatremia business 030217 neurology & neurosurgery |
| Zdroj: | International Journal of Surgery Case Reports |
| ISSN: | 2210-2612 |
| Popis: | Highlights • Acute intermittent porphyria is rare. • High index of suspicion is needed to diagnose acute intermittent porphyria in a patient with abdominal pain, neuro-psychiatric manifestations and hyponatremia after surgery. • Once suspected, prompt intensive care management should include high calorie intake, symptomatic treatment of hyponatremia, use of safe medications and careful fluid-electrolyte monitoring in order to avoid serious complications and mortality. Introduction Acute intermittent porphyria is a rare autosomal dominant metabolic disease. It is caused by a genetic mutation that results in deficiency of porphobilinogen deaminase enzyme, the third enzyme in heme biosynthesis. Acute intermittent porphyria precipitated by surgery is very rare. Case presentation We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The diagnosis was based on a positive urine test for porphobilinogen and confirmed by the presence of a heterozygous mutation in the hydroxyrmethylbilane synthase (HMBS) gene (c.760delC p Leu254). Discussion Acute intermittent porphyria is the most common and life threatining type of acute porphyrias. It is more common in women and usually presents after puberty with acute abdominal pain and diverse neuro-psychiatric manifestations that can be confused with several surgical and medical diseases. Acute intermittent porphyria after surgery is most likely due to postoperative pain and low-calorie intake. Once suspected, prompt ICU management including high calorie intake are necessary to avoid serious complications and mortality before starting definitive treatment with hematin. Conclusion Acute intermittent porphyria should be suspected in any patient, particularly young women, who develop diverse neuro-visceral and psychiatric manifestations and hyponatremia after surgery. |
| Databáze: | OpenAIRE |
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