Clinical and Genetic Profile of Indian Children with Primary Hyperoxaluria

Primary hyperoxaluria (PH) has heterogeneous renal manifestations in infants and children. This often leads to delay in diagnosis. In the past 3 years, genetic samples were sent for seven children with a clinical diagnosis of PH. Their medical records were reviewed for clinical presentation and outc...

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Autores principales: Pinapala, A., Garg, M., Kamath, N., Iyengar, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5434691/
https://www.ncbi.nlm.nih.gov/pubmed/28553045
http://dx.doi.org/10.4103/0971-4065.202831
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author Pinapala, A.
Garg, M.
Kamath, N.
Iyengar, A.
author_facet Pinapala, A.
Garg, M.
Kamath, N.
Iyengar, A.
author_sort Pinapala, A.
collection PubMed
description Primary hyperoxaluria (PH) has heterogeneous renal manifestations in infants and children. This often leads to delay in diagnosis. In the past 3 years, genetic samples were sent for seven children with a clinical diagnosis of PH. Their medical records were reviewed for clinical presentation and outcomes. Of the seven children, three were males. The median age of presentation was 4.9 years with the youngest presenting at 3 months of age. Nephrolithiasis, the most common presentation was associated with renal dysfunction in two children. Two children with no significant history presented in end-stage renal disease (ESRD). The sibling of one of the children in ESRD, with a history of consanguinity in parents, was screened for asymptomatic nephrolithiasis. Bilateral multiple renal calculi were found in majority of children followed by echogenic kidneys on ultrasound examination. Genetic analysis suggested PH Type 1 in five children and type 2 in two children. The mutations detected in our cohort were different from the previously reported common mutations. There was no obvious genotype-phenotype correlation noticed. Three children in ESRD are on maintenance dialysis. Nephrolithiasis being a common presentation of PH needs prompt evaluation. Mutations are generally population specific, and whole gene sequence analysis is critical in diagnosis.
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spelling pubmed-54346912017-05-26 Clinical and Genetic Profile of Indian Children with Primary Hyperoxaluria Pinapala, A. Garg, M. Kamath, N. Iyengar, A. Indian J Nephrol Case Report Primary hyperoxaluria (PH) has heterogeneous renal manifestations in infants and children. This often leads to delay in diagnosis. In the past 3 years, genetic samples were sent for seven children with a clinical diagnosis of PH. Their medical records were reviewed for clinical presentation and outcomes. Of the seven children, three were males. The median age of presentation was 4.9 years with the youngest presenting at 3 months of age. Nephrolithiasis, the most common presentation was associated with renal dysfunction in two children. Two children with no significant history presented in end-stage renal disease (ESRD). The sibling of one of the children in ESRD, with a history of consanguinity in parents, was screened for asymptomatic nephrolithiasis. Bilateral multiple renal calculi were found in majority of children followed by echogenic kidneys on ultrasound examination. Genetic analysis suggested PH Type 1 in five children and type 2 in two children. The mutations detected in our cohort were different from the previously reported common mutations. There was no obvious genotype-phenotype correlation noticed. Three children in ESRD are on maintenance dialysis. Nephrolithiasis being a common presentation of PH needs prompt evaluation. Mutations are generally population specific, and whole gene sequence analysis is critical in diagnosis. Medknow Publications & Media Pvt Ltd 2017 /pmc/articles/PMC5434691/ /pubmed/28553045 http://dx.doi.org/10.4103/0971-4065.202831 Text en Copyright: © 2017 Indian Journal of Nephrology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Pinapala, A.
Garg, M.
Kamath, N.
Iyengar, A.
Clinical and Genetic Profile of Indian Children with Primary Hyperoxaluria
title Clinical and Genetic Profile of Indian Children with Primary Hyperoxaluria
title_full Clinical and Genetic Profile of Indian Children with Primary Hyperoxaluria
title_fullStr Clinical and Genetic Profile of Indian Children with Primary Hyperoxaluria
title_full_unstemmed Clinical and Genetic Profile of Indian Children with Primary Hyperoxaluria
title_short Clinical and Genetic Profile of Indian Children with Primary Hyperoxaluria
title_sort clinical and genetic profile of indian children with primary hyperoxaluria
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5434691/
https://www.ncbi.nlm.nih.gov/pubmed/28553045
http://dx.doi.org/10.4103/0971-4065.202831
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