Open AccessSyndrome of Inappropriate Antidiuretic Hormone Secretion in a Patient with Uncontrolled Tyrosinaemia Type 1
Author(s) -
Abdulhamid Al-Hinai,
Fathiya Al-Murshedi,
Dana Al-Nabhani,
Khalid AlThihli
Publication year - 2021
Publication title -
sultan qaboos university medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.258
H-Index - 27
eISSN - 2075-0528
pISSN - 2075-051X
DOI - 10.18295/squmj.2021.21.02.023
Subject(s) - medicine , tyrosinemia , hyponatremia , antidiuretic , pediatrics , complication , lethargy , syndrome of inappropriate antidiuretic hormone secretion , surgery , hormone , physics , nuclear magnetic resonance , tyrosine
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.