Literature DB >> 24142278

Pregnancy and lactation outcomes in a Turkish patient with lysinuric protein intolerance.

Ozlem Unal1, Turgay Coşkun, Diclehan Orhan, Ayşegül Tokatl, Ali Dursun, Burcu Hişmi, Ozgür Ozyüncü, Serap Hatice Kalkanoğlu Sivri.   

Abstract

Maternal lysinuric protein intolerance (LPI) is associated with increased risk of anemia, toxemia, and retarded growth in fetus during pregnancy, and bleeding complications during delivery. There has been limited number of reports about pregnancy and outcomes of lactation in LPI. Here we present pregnancy and lactation outcomes in a Turkish patient with LPI. In the pregnancy and delivery period, her metabolic status was stable with protein-restricted diet and citrulline. Pathological examination of the placenta revealed multifocal placental infarcts. A successful outcome was achieved with well-controlled anemia, thrombocytopenia despite hemophagocytosis in bone marrow, and placental infarcts during pregnancy. The baby was exclusively breastfed for 6 months. His growth and development was normal. Mild proteinuria started at the fourth month of the delivery. Our case report showed the importance of follow-up of these patients in terms of placental pathologies during pregnancy and for other complications during lactation period.

Entities:  

Year:  2013        PMID: 24142278      PMCID: PMC4110330          DOI: 10.1007/8904_2013_259

Source DB:  PubMed          Journal:  JIMD Rep        ISSN: 2192-8304


  7 in total

1.  Hazards associated with pregnancies and deliveries in lysinuric protein intolerance.

Authors:  Laura Tanner; Kirsti Näntö-Salonen; Harri Niinikoski; Risto Erkkola; Kirsi Huoponen; Olli Simell
Journal:  Metabolism       Date:  2006-02       Impact factor: 8.694

2.  Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.

Authors:  Maria Pia Sperandeo; Patrizia Annunziata; Virginia Ammendola; Valentina Fiorito; Antonio Pepe; Maria Virginia Soldovieri; Maurizio Taglialatela; Generoso Andria; Gianfranco Sebastio
Journal:  Hum Mutat       Date:  2005-04       Impact factor: 4.878

3.  Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

Authors:  D Torrents; J Mykkänen; M Pineda; L Feliubadaló; R Estévez; R de Cid; P Sanjurjo; A Zorzano; V Nunes; K Huoponen; A Reinikainen; O Simell; M L Savontaus; P Aula; M Palacín
Journal:  Nat Genet       Date:  1999-03       Impact factor: 38.330

Review 4.  Lysinuric protein intolerance: reviewing concepts on a multisystem disease.

Authors:  Gianfranco Sebastio; Maria P Sperandeo; Generoso Andria
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-02-09       Impact factor: 3.908

5.  Lysinuric protein intolerance in pregnancy: case report with successful outcome.

Authors:  N Takayama; H Hamada; T Kubo
Journal:  Arch Gynecol Obstet       Date:  1995       Impact factor: 2.344

6.  Evaluation of a mass screening program for lysinuric protein intolerance in the northern part of Japan.

Authors:  Akio Koizumi; Norio Matsuura; Sumiko Inoue; Maki Utsunomiya; Jun-Ichi Nozaki; Kayoko Inoue; Yuhei Takasago
Journal:  Genet Test       Date:  2003

7.  SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.

Authors:  G Borsani; M T Bassi; M P Sperandeo; A De Grandi; A Buoninconti; M Riboni; M Manzoni; B Incerti; A Pepe; G Andria; A Ballabio; G Sebastio
Journal:  Nat Genet       Date:  1999-03       Impact factor: 38.330

  7 in total
  4 in total

Review 1.  Overview of symptoms and treatment for lysinuric protein intolerance.

Authors:  Atsuko Noguchi; Tsutomu Takahashi
Journal:  J Hum Genet       Date:  2019-06-18       Impact factor: 3.172

2.  A surprising cause of proteinuria: Answers.

Authors:  Belde Kasap Demir; Ali Kanık; Melis Köse; Burcu Öztürk Hişmi; Maşallah Baran
Journal:  Pediatr Nephrol       Date:  2022-01-09       Impact factor: 3.714

3.  Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.

Authors:  Josefina Longeri Contreras; Mabel A Ladino; Katherine Aránguiz; Gonzalo P Mendez; Zeynep Coban-Akdemir; Bo Yuan; Richard A Gibbs; Lindsay C Burrage; James R Lupski; Ivan K Chinn; Tiphanie P Vogel; Jordan S Orange; M Cecilia Poli
Journal:  Front Pediatr       Date:  2021-05-20       Impact factor: 3.418

4.  Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease.

Authors:  Susanna Bodoy; Fernando Sotillo; Meritxell Espino-Guarch; Maria Pia Sperandeo; Aida Ormazabal; Antonio Zorzano; Gianfranco Sebastio; Rafael Artuch; Manuel Palacín
Journal:  Int J Mol Sci       Date:  2019-10-24       Impact factor: 5.923

  4 in total

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