Literature DB >> 23711287

Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report.

R Lubrano1, E Bellelli, I Gentile, S Paoli, C Carducci, C Carducci, S Santagata, B Pérez, M Ugarte, D Labriola, M Elli.   

Abstract

Presently pregnancy is no more exceptional in women with metabolic diseases. However, it still poses significant medical problems both before and after childbirth. The challenge is even greater if the mother has undergone organ transplantation, because of her metabolic disease. We report on a case of pregnancy in a patient 29-year-old with methylmalonic acidemia cblA type (OMIM 251100) who received a renal transplantation at the age of 17 for end-stage renal disease (ESRD) caused by her primary disease. During pregnancy neither metabolic crises nor renal function changes were observed in the mother, with the only exception of a mild increase of her systemic blood pressure. To the fetus pregnancy was uneventful and during the first 30 months after birth the baby's neuropsychomotor development was normal and there were no episodes of metabolic derangement. This is evidence that methylmalonicacidemia cblA, even when treated with renal transplantation for inherent ESRD, is no contraindication to pregnancy. It is even possible that a functioning transplanted kidney contributes to improve metabolic parameters. © Copyright 2013 The American Society of Transplantation and the American Society of Transplant Surgeons.

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Year:  2013        PMID: 23711287     DOI: 10.1111/ajt.12282

Source DB:  PubMed          Journal:  Am J Transplant        ISSN: 1600-6135            Impact factor:   8.086


  9 in total

1.  Methylmalonic acidaemia in pregnancy.

Authors:  Yves Jacquemyn; Marieke Den Hartog; Francois Eyskens
Journal:  BMJ Case Rep       Date:  2014-03-31

2.  Methylmalonic acidemia and kidney transplantation.

Authors:  Riccardo Lubrano; Belen Perez; Marco Elli
Journal:  Pediatr Nephrol       Date:  2013-06-22       Impact factor: 3.714

Review 3.  Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.

Authors:  Donna B Raval; Melissa Merideth; Jennifer L Sloan; Nancy E Braverman; Robert L Conway; Irini Manoli; Charles P Venditti
Journal:  J Inherit Metab Dis       Date:  2015-01-08       Impact factor: 4.982

4.  A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia.

Authors:  Hilary J Vernon; C John Sperati; Joshua D King; Andrea Poretti; Neil R Miller; Jennifer L Sloan; Andrew M Cameron; Donna Myers; Charles P Venditti; David Valle
Journal:  J Inherit Metab Dis       Date:  2014-06-25       Impact factor: 4.982

Review 5.  Methylmalonic and propionic acidemias: clinical management update.

Authors:  Jamie L Fraser; Charles P Venditti
Journal:  Curr Opin Pediatr       Date:  2016-12       Impact factor: 2.856

6.  Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.

Authors:  Patrick Forny; Friederike Hörster; Diana Ballhausen; Anupam Chakrapani; Kimberly A Chapman; Carlo Dionisi-Vici; Marjorie Dixon; Sarah C Grünert; Stephanie Grunewald; Goknur Haliloglu; Michel Hochuli; Tomas Honzik; Daniela Karall; Diego Martinelli; Femke Molema; Jörn Oliver Sass; Sabine Scholl-Bürgi; Galit Tal; Monique Williams; Martina Huemer; Matthias R Baumgartner
Journal:  J Inherit Metab Dis       Date:  2021-03-09       Impact factor: 4.750

7.  Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.

Authors:  Jessica Scott Schwoerer; Sandra van Calcar; Gregory M Rice; James Deline
Journal:  Mol Genet Metab Rep       Date:  2016-06-02

Review 8.  Impact of pregnancy on inborn errors of metabolism.

Authors:  Gisela Wilcox
Journal:  Rev Endocr Metab Disord       Date:  2018-03       Impact factor: 6.514

9.  Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis.

Authors:  Arnaud Wiedemann; Abderrahim Oussalah; Nathalie Lamireau; Maurane Théron; Melissa Julien; Jean-Philippe Mergnac; Baptiste Augay; Pauline Deniaud; Tom Alix; Marine Frayssinoux; François Feillet; Jean-Louis Guéant
Journal:  Cell Rep Med       Date:  2022-06-27
  9 in total

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