ESPN 51th Annual Meeting

ESPN 2018


 
PORPHYRIA PRESENTED WITH INAPPROPRIATE ANTIDIURETIC HORMON SECRETION SYNDROME
OZLEM YUKSEL AKSOY 1 ZEHRA AYDIN 1 FATMA SEMSA CAYCI 1 OZLEM UNAL 2 MEHMET GUNDUZ 2 FUNDA BOSTANCI 3 UMUT SELDA BAYRAKCI 1

1- ANKARA CHILDRENS HEALTH, HEMATOLOGY-ONCOLOGY TRAINING AND RESEARCH HOSPITAL, DEPARTMENT OF PEDIATRIC NEPHROLOGY
2- ANKARA CHILDRENS HEALTH, HEMATOLOGY-ONCOLOGY TRAINING AND RESEARCH HOSPITAL, DEPARTMENT OF PEDIATRIC METABOLISM AND NUTRITION
3- ANKARA CHILDRENS HEALTH, HEMATOLOGY-ONCOLOGY TRAINING AND RESEARCH HOSPITAL, DEPARTMENT OF PEDIATRICS
 
Introduction:

 Acute intermittent porphyria is a rare autosomal dominant metabolic disease which may present with gastrointestinal and neurological symptoms. Here we report a patient diagnosed as acute intermittent porphyria (AIP) presented with hyponatremia.

Material and methods:

 A seventeen year old patient applied to pediatric emergency department with complaint of abdominal pain, nausea, dizziness and a suspicious history of seizures. On admission her physical examination was normal except high blood pressure (160/90 mmHg). She was looking sick and had a tendency to sleep. Laboratory examination revealed severe hyponatremia (121 mmol/L). Blood osmolarity was 278 ng/mL and urine osmolarity was 489 ng/mL. Syndrome of inappropriate anti-diuretic hormone was thought and salt replacement was established together with volume restriction. 

Results:

Despite of normalization of serum sodium level her severe abdominal pain persisted. Autoimmune, infectious, toxicologic etiologies were screened. Etiological laboratory work-up and cranial and abdominal imaging studies were normal. We have learned that her mother had died at a young age with similar symptoms. Severe abdominal pain, SIADH and family history had suggested acute porphyria. The Watson-Schwartz urine screen test was positive for porphobilinogen. Urine total porphyrin level was 418 nmol/l, erythrocyte protoporohyrin was 0,6 µmol/l, total plasma porphyrin was 26.1 nmol/l.

 

Conclusions:

 Acute intermittent porphyria, which is a rare metabolic disease, may trigger SIADH release in patients with severe abdominal pain. Acute intermittent porphyria should be considered in etiological investigation of SIADH and abdominal pain.