Title: Acute Intermittent Porphyria Presenting as SIADH: A Rare Presentation

Authors: Rupinder Kaur, Jagminder Singh, Simran Kaur, Harmandeep Singh Chahal, Rajesh Mahajan

 DOI:  https://dx.doi.org/10.18535/jmscr/v6i2.34

Abstract

Acute intermittent porphyria (AIP) is an autosomal dominant metabolic disorder caused by deficiency of porphobilinogen deaminase; an enzyme involved in synthesis of heme. We reported a case of 20 year old female patient presented with abdominal pain, vomiting, seizures and altered sensorium. She was diagnosed as a case of AIP in porphyric crisis with hyponatremia due to syndrome of inappropriate anti-diuretic hormone secretion (SIADH) and was managed with dextrose, hypertonic saline and other supportive measures. Early diagnosis and treatment increases chances of better outcome.

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Corresponding Author

Simran Kaur

Assistant Professor, Dept of Nephrology,

Dayanand Medical College and Hospital, Ludhiana, Punjab, India