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Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature
Cystinuria is a rare genetic disorder inherited by an autosomal recessive pattern which affects the transmembrane transporter for the base amino acid cystine. It has a general prevalence of 1 in 7000 with demographic variations. Patients with cystinuria have excessive urinary excretion of cystine, w...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10117994/ https://www.ncbi.nlm.nih.gov/pubmed/37089588 http://dx.doi.org/10.3389/fmed.2023.1097442 |
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author | Ivandic, Ema Maric, Marjan Elvedi-Gasparovic, Vesna Fistrek Prlic, Margareta Lamot, Lovro Jelakovic, Bojan Vukovic Brinar, Ivana |
author_facet | Ivandic, Ema Maric, Marjan Elvedi-Gasparovic, Vesna Fistrek Prlic, Margareta Lamot, Lovro Jelakovic, Bojan Vukovic Brinar, Ivana |
author_sort | Ivandic, Ema |
collection | PubMed |
description | Cystinuria is a rare genetic disorder inherited by an autosomal recessive pattern which affects the transmembrane transporter for the base amino acid cystine. It has a general prevalence of 1 in 7000 with demographic variations. Patients with cystinuria have excessive urinary excretion of cystine, which can lead to the formation of stones. Up to 70% of patients will develop chronic kidney disease that can progress even to end-stage renal disease. Symptoms usually start in the first two decades of life with a typical presentation consisting of flank pain and renal colic, usually accompanied by urinary tract infection and deterioration of kidney function. Men are typically affected twice as often as women and have a more severe clinical course. Diagnosis is made by spectrophotometric analysis of the stones that are collected after spontaneous expulsion or medical intervention. Genetic testing is not mandatory but is recommended in uncertain cases or as a part of genetic counseling. Treatment consists of diet modification, alkalization of urine, and thiol-based therapies if other measures fail to prevent stone formation. In pregnancy, cystinuria with the formation of cystine stones represents a therapeutic challenge and requires a multidisciplinary approach consisting of an uro-nephrology team and a gynecologist. We present the case of a 34-year-old woman with cystinuria on whom the diagnosis was made by analysis of the expulsed stone. While her previous pregnancies were without complications, her third pregnancy was accompanied by frequent urinary tract infections, acute worsening of kidney function, and urological interventions during pregnancy due to the formation of new stones. Despite the complicated course, the pregnancy was successfully carried to term with the delivery of a healthy female child. |
format | Online Article Text |
id | pubmed-10117994 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-101179942023-04-21 Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature Ivandic, Ema Maric, Marjan Elvedi-Gasparovic, Vesna Fistrek Prlic, Margareta Lamot, Lovro Jelakovic, Bojan Vukovic Brinar, Ivana Front Med (Lausanne) Medicine Cystinuria is a rare genetic disorder inherited by an autosomal recessive pattern which affects the transmembrane transporter for the base amino acid cystine. It has a general prevalence of 1 in 7000 with demographic variations. Patients with cystinuria have excessive urinary excretion of cystine, which can lead to the formation of stones. Up to 70% of patients will develop chronic kidney disease that can progress even to end-stage renal disease. Symptoms usually start in the first two decades of life with a typical presentation consisting of flank pain and renal colic, usually accompanied by urinary tract infection and deterioration of kidney function. Men are typically affected twice as often as women and have a more severe clinical course. Diagnosis is made by spectrophotometric analysis of the stones that are collected after spontaneous expulsion or medical intervention. Genetic testing is not mandatory but is recommended in uncertain cases or as a part of genetic counseling. Treatment consists of diet modification, alkalization of urine, and thiol-based therapies if other measures fail to prevent stone formation. In pregnancy, cystinuria with the formation of cystine stones represents a therapeutic challenge and requires a multidisciplinary approach consisting of an uro-nephrology team and a gynecologist. We present the case of a 34-year-old woman with cystinuria on whom the diagnosis was made by analysis of the expulsed stone. While her previous pregnancies were without complications, her third pregnancy was accompanied by frequent urinary tract infections, acute worsening of kidney function, and urological interventions during pregnancy due to the formation of new stones. Despite the complicated course, the pregnancy was successfully carried to term with the delivery of a healthy female child. Frontiers Media S.A. 2023-04-06 /pmc/articles/PMC10117994/ /pubmed/37089588 http://dx.doi.org/10.3389/fmed.2023.1097442 Text en Copyright © 2023 Ivandic, Maric, Elvedi-Gasparovic, Fistrek Prlic, Lamot, Jelakovic and Vukovic Brinar. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Medicine Ivandic, Ema Maric, Marjan Elvedi-Gasparovic, Vesna Fistrek Prlic, Margareta Lamot, Lovro Jelakovic, Bojan Vukovic Brinar, Ivana Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature |
title | Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature |
title_full | Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature |
title_fullStr | Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature |
title_full_unstemmed | Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature |
title_short | Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature |
title_sort | typical course of cystinuria leading to untypical complications in pregnancy: a case report and review of literature |
topic | Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10117994/ https://www.ncbi.nlm.nih.gov/pubmed/37089588 http://dx.doi.org/10.3389/fmed.2023.1097442 |
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