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First Scandinavian case of successful pregnancy during nitisinone treatment for type 1 tyrosinemia.
J Pediatr Endocrinol Metab. 2020 May 26; 33(5):661-664.JP

Abstract

Background Type 1 tyrosinemia is a hereditary metabolic disease in which tyrosine metabolites damage the liver and kidneys. Nitisinone medication revolutionized the treatment, but the effects of the drug during human pregnancy are unknown. Case presentation A 17-year-old tyrosinemia patient became pregnant. Nitisinone was continued throughout pregnancy with a varying serum concentration and dose ranging from 0.8 to 1.4 mg/kg/day. Blood tyrosine remained stable until it increased in late pregnancy. α-fetoprotein increased to 284 μg/L without new changes in liver. Urine succinylacetone remained undetectable, but there were signs of possibly reoccurring kidney tubulopathy. Fetal ultrasound monitoring was normal throughout the pregnancy and the newborn healthy. After the delivery, α-fetoprotein normalized, but tyrosine continued to rise for up to 1 year. The child is developing normally. Conclusions Pregnancy during nitisinone was successful, but tailoring of the drug dose and possibly reappearing complications, as also increasing serum tyrosine concentration after delivery warranted intensified surveillance.

Authors+Show Affiliations

Tampere Center for Child Health Research, Tampere University and Department of Paediatrics, Tampere University Hospital, Tampere, Finland.Department of Internal Medicine, Tampere University Hospital, Tampere, Finland.Tampere Center for Child Health Research, Tampere University and Department of Paediatrics, Tampere University Hospital, Tampere, Finland. University Consortium of Seinäjoki and Department of Paediatrics, Seinäjoki Central Hospital, Seinäjoki, Finland.Tampere Center for Child Health Research, Tampere University and Department of Paediatrics, Tampere University Hospital, Tampere, Finland.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32238608

Citation

Äärelä, Linnea, et al. "First Scandinavian Case of Successful Pregnancy During Nitisinone Treatment for Type 1 Tyrosinemia." Journal of Pediatric Endocrinology & Metabolism : JPEM, vol. 33, no. 5, 2020, pp. 661-664.
Äärelä L, Nevalainen PI, Kurppa K, et al. First Scandinavian case of successful pregnancy during nitisinone treatment for type 1 tyrosinemia. J Pediatr Endocrinol Metab. 2020;33(5):661-664.
Äärelä, L., Nevalainen, P. I., Kurppa, K., & Hiltunen, P. (2020). First Scandinavian case of successful pregnancy during nitisinone treatment for type 1 tyrosinemia. Journal of Pediatric Endocrinology & Metabolism : JPEM, 33(5), 661-664. https://doi.org/10.1515/jpem-2019-0540
Äärelä L, et al. First Scandinavian Case of Successful Pregnancy During Nitisinone Treatment for Type 1 Tyrosinemia. J Pediatr Endocrinol Metab. 2020 May 26;33(5):661-664. PubMed PMID: 32238608.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - First Scandinavian case of successful pregnancy during nitisinone treatment for type 1 tyrosinemia. AU - Äärelä,Linnea, AU - Nevalainen,Pasi I, AU - Kurppa,Kalle, AU - Hiltunen,Pauliina, PY - 2019/11/18/received PY - 2020/02/24/accepted PY - 2020/4/3/pubmed PY - 2020/4/3/medline PY - 2020/4/3/entrez KW - complications KW - nitisinone KW - pregnancy KW - tyrosinemia SP - 661 EP - 664 JF - Journal of pediatric endocrinology & metabolism : JPEM JO - J. Pediatr. Endocrinol. Metab. VL - 33 IS - 5 N2 - Background Type 1 tyrosinemia is a hereditary metabolic disease in which tyrosine metabolites damage the liver and kidneys. Nitisinone medication revolutionized the treatment, but the effects of the drug during human pregnancy are unknown. Case presentation A 17-year-old tyrosinemia patient became pregnant. Nitisinone was continued throughout pregnancy with a varying serum concentration and dose ranging from 0.8 to 1.4 mg/kg/day. Blood tyrosine remained stable until it increased in late pregnancy. α-fetoprotein increased to 284 μg/L without new changes in liver. Urine succinylacetone remained undetectable, but there were signs of possibly reoccurring kidney tubulopathy. Fetal ultrasound monitoring was normal throughout the pregnancy and the newborn healthy. After the delivery, α-fetoprotein normalized, but tyrosine continued to rise for up to 1 year. The child is developing normally. Conclusions Pregnancy during nitisinone was successful, but tailoring of the drug dose and possibly reappearing complications, as also increasing serum tyrosine concentration after delivery warranted intensified surveillance. SN - 2191-0251 UR - https://www.unboundmedicine.com/medline/citation/32238608/First_Scandinavian_case_of_successful_pregnancy_during_nitisinone_treatment_for_type_1_tyrosinemia_ L2 - https://www.degruyter.com/doi/10.1515/jpem-2019-0540 DB - PRIME DP - Unbound Medicine ER -
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