TY - JOUR
T1 - Syndrome of inappropriate antidiuretic hormone secretion in a patient with uncontrolled tyrosinaemia type 1
AU - Al-Hinai, Abdulhamid
AU - Al-Murshedi, Fathiya
AU - Al-Nabhani, Dana
AU - Al-Thihli, Khalid
N1 - Publisher Copyright:
© 2021, Sultan Qaboos University. All rights reserved.
PY - 2021/6/21
Y1 - 2021/6/21
N2 - 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.
AB - 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.
KW - Case Report
KW - Hyponatremia
KW - Inappropriate ADH Syndrome
KW - Oman
KW - Tyrosinemia Type 1
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U2 - 10.18295/squmj.2021.21.02.023
DO - 10.18295/squmj.2021.21.02.023
M3 - Article
C2 - 34221482
AN - SCOPUS:85108706059
SN - 2075-051X
VL - 21
SP - e312-e315
JO - Sultan Qaboos University Medical Journal
JF - Sultan Qaboos University Medical Journal
IS - 2
ER -