Chloride diarrhea in a child 8 months old
Chloride diarrhea is a rare genetically determined disease caused by mutations of the SLC26A3 gene and characterized by the appearance of persistent watery diarrhea from the first days of the child’s life. The disease is accompanied by the development of hypokalemic hypochloraemic alkalosis. Feature...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | Russian |
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Ltd. “The National Academy of Pediatric Science and Innovation”
2018-04-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/649 |
| _version_ | 1797875218095538176 |
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| author | I. N. Zakharova I. D. Maykova O. A. Kuznetsova L. V. Goncharova I. N. Kholodova G. E. Zaydenvarg Yu. A. Dmitriyeva S. N. Borzakova E. V. Radchenko A. S. Vorobyova |
| author_facet | I. N. Zakharova I. D. Maykova O. A. Kuznetsova L. V. Goncharova I. N. Kholodova G. E. Zaydenvarg Yu. A. Dmitriyeva S. N. Borzakova E. V. Radchenko A. S. Vorobyova |
| author_sort | I. N. Zakharova |
| collection | DOAJ |
| description | Chloride diarrhea is a rare genetically determined disease caused by mutations of the SLC26A3 gene and characterized by the appearance of persistent watery diarrhea from the first days of the child’s life. The disease is accompanied by the development of hypokalemic hypochloraemic alkalosis. Features of the clinical aspects and metabolic disorders in congenital chloride diarrhea determine the need for differential diagnosis with a wide range of pathological conditions, which often leads to late diagnosis and increases the risk of complications. The article presents the clinical analysis of a patient with congenital chloride diarrhea, the criteria for diagnosing the disease, the possible errors in the diagnostic search process, describes the tactics of the child’s management. |
| first_indexed | 2024-04-10T01:43:06Z |
| format | Article |
| id | doaj.art-0b84530a50c5428380fd5e2be4680f87 |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:43:06Z |
| publishDate | 2018-04-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-0b84530a50c5428380fd5e2be4680f872023-03-13T09:12:45ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282018-04-01632737810.21508/1027-4065-2018-63-2-73-78576Chloride diarrhea in a child 8 months oldI. N. Zakharova0I. D. Maykova1O. A. Kuznetsova2L. V. Goncharova3I. N. Kholodova4G. E. Zaydenvarg5Yu. A. Dmitriyeva6S. N. Borzakova7E. V. Radchenko8A. S. Vorobyova9ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, МоскваДетская городская клиническая больница им. З.А. Башляевой Департамента здравоохранения г. МосквыДетская городская клиническая больница им. З.А. Башляевой Департамента здравоохранения г. МосквыДетская городская клиническая больница им. З.А. Башляевой Департамента здравоохранения г. МосквыФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, МоскваФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, МоскваФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, МоскваФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова», МоскваДетская городская клиническая больница им. З.А. Башляевой Департамента здравоохранения г. МосквыДетская городская клиническая больница им. З.А. Башляевой Департамента здравоохранения г. МосквыChloride diarrhea is a rare genetically determined disease caused by mutations of the SLC26A3 gene and characterized by the appearance of persistent watery diarrhea from the first days of the child’s life. The disease is accompanied by the development of hypokalemic hypochloraemic alkalosis. Features of the clinical aspects and metabolic disorders in congenital chloride diarrhea determine the need for differential diagnosis with a wide range of pathological conditions, which often leads to late diagnosis and increases the risk of complications. The article presents the clinical analysis of a patient with congenital chloride diarrhea, the criteria for diagnosing the disease, the possible errors in the diagnostic search process, describes the tactics of the child’s management.https://www.ped-perinatology.ru/jour/article/view/649детиврожденная хлоридная диареягипокалиемиягипохлоремияметаболический алкалозген slc26a3дифференциальная диагностикалечение |
| spellingShingle | I. N. Zakharova I. D. Maykova O. A. Kuznetsova L. V. Goncharova I. N. Kholodova G. E. Zaydenvarg Yu. A. Dmitriyeva S. N. Borzakova E. V. Radchenko A. S. Vorobyova Chloride diarrhea in a child 8 months old Rossijskij Vestnik Perinatologii i Pediatrii дети врожденная хлоридная диарея гипокалиемия гипохлоремия метаболический алкалоз ген slc26a3 дифференциальная диагностика лечение |
| title | Chloride diarrhea in a child 8 months old |
| title_full | Chloride diarrhea in a child 8 months old |
| title_fullStr | Chloride diarrhea in a child 8 months old |
| title_full_unstemmed | Chloride diarrhea in a child 8 months old |
| title_short | Chloride diarrhea in a child 8 months old |
| title_sort | chloride diarrhea in a child 8 months old |
| topic | дети врожденная хлоридная диарея гипокалиемия гипохлоремия метаболический алкалоз ген slc26a3 дифференциальная диагностика лечение |
| url | https://www.ped-perinatology.ru/jour/article/view/649 |
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