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Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants
A 2-month-old male infant presented with white colored stools 1 month after birth. There was no jaundice of the skin, mucous membrane, or sclera; his liver was enlarged (4 cm below the ribs), and his liver function tests showed slightly elevated total bilirubin (TB), direct bilirubin (DB), and total...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8081048/ https://www.ncbi.nlm.nih.gov/pubmed/33937153 http://dx.doi.org/10.3389/fped.2021.656584 |
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author | Guo, Jing He, Rong Mao, Zhi-qin |
author_facet | Guo, Jing He, Rong Mao, Zhi-qin |
author_sort | Guo, Jing |
collection | PubMed |
description | A 2-month-old male infant presented with white colored stools 1 month after birth. There was no jaundice of the skin, mucous membrane, or sclera; his liver was enlarged (4 cm below the ribs), and his liver function tests showed slightly elevated total bilirubin (TB), direct bilirubin (DB), and total bile acid (TBA). An abdominal doppler ultrasound showed no signs of biliary atresia. Genetic testing revealed a CFTR hemizygous mutation site (c.223C>T) in exon 3 and exon 2–3 heterozygous deletion mutation. The infant's stool turned yellow after oral administration of pancreatic tablets. Finally, the infant was diagnosed with cystic fibrosis (CF). Review of literature revealed five children (including the infant in this case study) with CF who presented with white stool. All five children had anemia, four had edema and hypoproteinemia, five had changes in stool color (it was pistachio-green color in two patients, pale colored in one, acholic stool in one, and white stool in one), two had cholestasis, one infant had delayed meconium discharge, and three children had delayed growth and hepatomegaly. Two children had an abnormal sweat test, one had a F508del compound heterozygous mutation, and one had three mutation sites (C.214G>G/A, P.A72T; C.650A>A/G, P.E217G, and C.3406G>G/A, P. A1136T), which was a compound heterozygous mutation. So, CF could be included in the differential diagnosis of infants with white stool. Genetic testing could confirm an early diagnosis of CF. Pancreatic replacement therapy has been shown to be beneficial for improving the digestive function. |
format | Online Article Text |
id | pubmed-8081048 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-80810482021-04-29 Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants Guo, Jing He, Rong Mao, Zhi-qin Front Pediatr Pediatrics A 2-month-old male infant presented with white colored stools 1 month after birth. There was no jaundice of the skin, mucous membrane, or sclera; his liver was enlarged (4 cm below the ribs), and his liver function tests showed slightly elevated total bilirubin (TB), direct bilirubin (DB), and total bile acid (TBA). An abdominal doppler ultrasound showed no signs of biliary atresia. Genetic testing revealed a CFTR hemizygous mutation site (c.223C>T) in exon 3 and exon 2–3 heterozygous deletion mutation. The infant's stool turned yellow after oral administration of pancreatic tablets. Finally, the infant was diagnosed with cystic fibrosis (CF). Review of literature revealed five children (including the infant in this case study) with CF who presented with white stool. All five children had anemia, four had edema and hypoproteinemia, five had changes in stool color (it was pistachio-green color in two patients, pale colored in one, acholic stool in one, and white stool in one), two had cholestasis, one infant had delayed meconium discharge, and three children had delayed growth and hepatomegaly. Two children had an abnormal sweat test, one had a F508del compound heterozygous mutation, and one had three mutation sites (C.214G>G/A, P.A72T; C.650A>A/G, P.E217G, and C.3406G>G/A, P. A1136T), which was a compound heterozygous mutation. So, CF could be included in the differential diagnosis of infants with white stool. Genetic testing could confirm an early diagnosis of CF. Pancreatic replacement therapy has been shown to be beneficial for improving the digestive function. Frontiers Media S.A. 2021-04-14 /pmc/articles/PMC8081048/ /pubmed/33937153 http://dx.doi.org/10.3389/fped.2021.656584 Text en Copyright © 2021 Guo, He and Mao. 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 | Pediatrics Guo, Jing He, Rong Mao, Zhi-qin Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants |
title | Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants |
title_full | Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants |
title_fullStr | Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants |
title_full_unstemmed | Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants |
title_short | Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants |
title_sort | case report: white colored stool: an early sign of cystic fibrosis in infants |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8081048/ https://www.ncbi.nlm.nih.gov/pubmed/33937153 http://dx.doi.org/10.3389/fped.2021.656584 |
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