Syndrome of inappropriate antidiuretic hormone secretion in a patient with uncontrolled tyrosinaemia type 1

Abdulhamid Al-Hinai, Fathiya Al-Murshedi, Dana Al-Nabhani, Khalid Al-Thihli*

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةArticleمراجعة النظراء

ملخص

Syndrome of inappropriate antidiuretic hormone (SIADH) secretion is a recognisable complication of acute porphyria. We report a nine-year-old female patient with hereditary tyrosinaemia type 1 and poor adherence to nitisinone therapy who presented with acute abdominal pain, vomiting and lethargy at Sultan Qaboos University Hospital, Muscat, Oman in 2016. She subsequently developed generalised tonic-clonic seizures attributable to severe hyponatremia that met the diagnostic criteria of SIADH. The acute porphyria screen also appeared positive. The patient responded well to fluid restriction and was discharged home without immediate neurological sequelae. Although acute porphyria is also a recognised complication of uncontrolled tyrosinaemia type 1, to the best of the authors’ knowledge, no patient with tyrosinaemia type 1 has been reported to present with SIADH.

اللغة الأصليةEnglish
الصفحات (من إلى)e312-e315
دوريةSultan Qaboos University Medical Journal
مستوى الصوت21
رقم الإصدار2
المعرِّفات الرقمية للأشياء
حالة النشرPublished - يونيو 21 2021

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