pituitrin and Porphyria--Acute-Intermittent

A 31-year-old female presented to the emergency department with abdominal pain, vomiting and constipation. Serum sodium levels were recorded at 110 mmol/L on admission, dropping to 96 mmol/L despite fluid restriction. The patient developed hallucinations and required hypertonic saline administration in critical care. Urinary sodium was detected at 149 mmol/L, consistent with syndrome of inappropriate antidiuretic hormone secretion (SiADH). Urinary porphyrins were also raised, consistent with a diagnosis of acute intermittent porphyria with SiADH as a complication.

Topics: Abdominal Pain; Adult; Female; Humans; Inappropriate ADH Syndrome; Porphyria, Acute Intermittent; Sodium; Vasopressins

Acute intermittent porphyria (AIP) is a rare, hereditary, metabolic disease caused by a defect in heme biosynthesis. Hormonal changes may trigger porphyria attacks.. 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.. Acute porphyrias should be considered in differential diagnosis of abdominal pain, especially when there are accompanying symptoms like hyponatremia, seizures, mental changes and hypertension.

Topics: Abdominal Pain; Adolescent; Child; Diuretics; Female; Humans; Hydroxymethylbilane Synthase; Porphyria, Acute Intermittent; Vasopressins

Topics: Adult; Female; Humans; Hyponatremia; Inappropriate ADH Syndrome; Porphobilinogen; Porphyria, Acute Intermittent; Transaminases; Vasopressins

Topics: Blood; Glycolates; Hemoglobins; Humans; Hyponatremia; Magnesium; Metabolism; Pharmacology; Porphyria, Acute Intermittent; Porphyrias; Thioglycolates; Urine; Vasopressins; Water-Electrolyte Balance

Topics: Humans; Hyponatremia; Porphyria, Acute Intermittent; Porphyrias; Proteinuria; Seizures; Urine; Vasopressins

Topics: Humans; Hyponatremia; Ions; Porphyria, Acute Intermittent; Porphyrias; Sodium; Vasopressins

Topics: Electrolytes; Humans; Porphyria, Acute Intermittent; Porphyrias; Vasopressins; Water; Water-Electrolyte Balance