Literature DB >> 32747595

Multidisciplinary approach in medicine: successful pregnancy in a patient with hyperinsulinism/hyperammonaemia (HI/HA) syndrome.

Bernadette J M Benner1, Mijke Bazelmans2, Hidde Huidekoper3, Mirjam Langeveld4, Janneke Langendonk1, Sam Schoenmakers5.   

Abstract

This case illustrates the importance of multidisciplinary counselling and management of pregnancies in women with complex medical conditions, especially concerning women with cognitive impairment. We present a woman with hyperinsulinism/hyperammonaemia (HI/HA) syndrome. This syndrome is characterised by recurrent episodes of hypoglycaemia and elevated ammonia levels, which are potentially harmful to both the patient and a developing fetus. We describe a successful multidisciplinary approach during the pregnancy of a mentally challenged patient with HI/HA syndrome. This case illustrates the importance of personalised counselling during the preconception period and emphasises to include all disciplines involved in the medical and daily care of such a patient. In our case, the extensive multidisciplinary care during the preconception period, pregnancy, delivery and postpartum period resulted in a good maternal and neonatal outcome. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.

Entities:  

Keywords:  metabolic disorders; pregnancy

Mesh:

Substances:

Year:  2020        PMID: 32747595      PMCID: PMC7401997          DOI: 10.1136/bcr-2019-234055

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  9 in total

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Journal:  J Pediatr Endocrinol Metab       Date:  2000-04       Impact factor: 1.634

3.  Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia.

Authors:  Mariagrazia Grimaldi; Melis Karaca; Livia Latini; Estelle Brioudes; Thomas Schalch; Pierre Maechler
Journal:  Hum Mol Genet       Date:  2017-09-15       Impact factor: 6.150

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Authors:  N F Butte
Journal:  Am J Clin Nutr       Date:  2000-05       Impact factor: 7.045

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Authors:  Charles A Stanley
Journal:  Neurochem Int       Date:  2010-12-02       Impact factor: 3.921

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Authors:  T O Scholl; M Sowers; X Chen; C Lenders
Journal:  Am J Epidemiol       Date:  2001-09-15       Impact factor: 4.897

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Authors:  Andrew A Palladino; Charles A Stanley
Journal:  Rev Endocr Metab Disord       Date:  2010-09       Impact factor: 6.514

8.  Severity of hyperammonemic encephalopathy correlates with brain ammonia level and saturation of glutamine synthetase in vivo.

Authors:  K Kanamori; B D Ross; J C Chung; E L Kuo
Journal:  J Neurochem       Date:  1996-10       Impact factor: 5.372

Review 9.  Hypoglycaemia in pregnancy.

Authors:  B Persson; U Hansson
Journal:  Baillieres Clin Endocrinol Metab       Date:  1993-07
  9 in total
  1 in total

1.  Management of pregnancy in a patient with congenital hyperinsulinism treated with association of diazoxide/calcium channel blocker.

Authors:  Madleen Lemaitre; Claire Douillard; Philippe Froguel; Amélie Bonnefond; Anne Vambergue
Journal:  Acta Diabetol       Date:  2022-05-27       Impact factor: 4.087

  1 in total

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