Ornithine transcarbamylase deficiency – life-threatening complications in pregnancy and postpartum period

Published on
Scene 1 (0s)

Department od Gynaecology and Obstetrics , University Hospital Ostrava Head od Department: doc. MUDr. Ondřej Šimetka, Ph.D., MBA

Photo by The New York Public Library on Unsplash

Photo by Megan Thomas on Unsplash

Photo by Daniel Frank on Unsplash

Ornithine transcarbamylase deficiency – life-threatening complications in pregnancy and postpartum period

Pavla Miřátská, Richard Špaček, Martina Romanová, Ondřej šimetka. University hospital Ostrava, Czechia

Scene 2 (17s)

Photo by Alex wong on Unsplash

Photo by Jr Korpa on Unsplash

Photo by JJ Ying on Unsplash

I. PATIENT - PERSONAL HISTORY

- 27-year-old G2P1 - VACTERL association – multiple reconstruction surgeries in childhood - caesarean section 2016 - scoliosis – previous neurosugical and orthopedic surgeries - gestational DM – dietary measures - ornithin transcarbamylasr deficiency – heterozygote – no dietary restrictions - hypoacusis

Scene 3 (41s)

Photo by Reproductive Health Supplies Coalition on Unsplash

Photo by RhondaK Native Florida Folk Artist on Unsplash

Photo by Uğur Gürcüoğlu on Unsplash

Photo by Laura Ockel on Unsplash

I. PATIENT - LABOUR

For orthopedic indication scheduled a C-section after 39th week Two days later – PROM and onset of uterine contractions  emergency C-section performed , Glucose i.v. in peri- and postoperative period

Scene 4 (59s)

Photo by Alexandru Acea on Unsplash

Photo by Tim Cooper on Unsplash

I. PATIENT - POSTPARTUM PERIOD

- Glucose i.v. early post partum Monitoring of ammonium level - Uncomplicated course Newborn – a boy, OTC deficiency confirmed , transfer to specialized metabolic center

Scene 5 (1m 14s)

Photo by Aditya Romansa on Unsplash

Photo by Aaron Burden on Unsplash

Photo by Zoltan Tasi on Unsplash

II. PATIENT

26-year-old G1P0, g.w. 35+4 OTC deficiency – no dietary restrictions GDM – diet preeclampsia Induction of labour at week 37+0, uncomplicated labour, Glucose i.v. administered, uncomplicated postpartum period Newborn – a girl, OTC heterozygote

Scene 6 (1m 35s)

Photo by Benjamin Salvatore on Unsplash

Photo by Behzad Ghaffarian on Unsplash

Photo by Ruth D on Unsplash

WHAT WE KNOW SO FAR...

Rare X-linked disease Pregnancy as a possible trigger Symptoms mimic postpartum depression Several case studies resulting in maternal death

Scene 7 (1m 47s)

Photo by Ricardo Gomez Angel on Unsplash

Photo by Stephen Johnson on Unsplash

TAKE HOME MESAAGE

Personal and family history Preventive measures Cautious monitoring Do not underestimate!