Congenital enteropathies in children: An algorithm for differential diagnosis and therapeutic management. Case report

Cover Page

Cite item

Full Text

Abstract

Infant diarrhea may be caused by infectious, allergic, or surgical diseases. A distinct group comprises congenital enteropathies, a heterogeneous group of genetically determined diseases, including defects in the absorption and transport of nutrients and electrolytes, impaired differentiation of enterocytes and enteroendocrine cells, and defects in the modulation of the intestinal immune response. The final diagnosis of enteropathies is based on the results of molecular genetic tests; however, a detailed assessment of clinical and medical history data and the results of laboratory and instrumental studies enables quick diagnostic search direction and choice of the correct therapeutic tactics. The article considers the algorithm for the differential diagnosis of congenital diarrhea, presents a clinical case of congenital osmotic diarrhea due to disaccharidase insufficiency, and considers the difficulties of the diagnostic search and approaches to diet therapy. The prospective of using a fructose-based formula, Galactomin-19, in the diet therapy of glucose-galactose malabsorption, is presented.

Full Text

Restricted Access

About the authors

Yulia A. Dmitrieva

Russian Medical Academy of Continuous Professional Education; Bashlyaeva Children's City Clinical Hospital

Author for correspondence.
Email: jadmitrieva@mail.ru
ORCID iD: 0000-0003-0668-7336

Cand. Sci. (Med.)

Russian Federation, Moscow; Moscow

Irina N. Zakharova

Russian Medical Academy of Continuous Professional Education

Email: zakharova-rmapo@yandex.ru
ORCID iD: 0000-0003-4200-4598

D. Sci. (Med.), Prof.

Russian Federation, Moscow

Aliya R. Miyanova

Russian Medical Academy of Continuous Professional Education

Email: miyanova@yandex.ru
ORCID iD: 0009-0006-3184-1701

Graduate Student

Russian Federation, Moscow

Ekaterina V. Scorobogatova

Russian Medical Academy of Continuous Professional Education; Bashlyaeva Children's City Clinical Hospital

Email: katrinscor@mail.ru
ORCID iD: 0009-0003-9227-9378

Cand. Sci. (Med.)

Russian Federation, Moscow; Moscow

Zhanna V. Polyakova

Bashlyaeva Children's City Clinical Hospital

Email: janna.ysp@gmail.com
ORCID iD: 0009-0007-9538-0497

gastroenterologist

Russian Federation, Moscow

Margarita A. Menshikova

Bashlyaeva Children's City Clinical Hospital

Email: inf@mail.ru
ORCID iD: 0000-0003-2142-5641

Department Head

Russian Federation, Moscow

Sergei F. Piliutik

Bashlyaeva Children's City Clinical Hospital

Email: jadmitrieva@mail.ru

Department Head

Russian Federation, Moscow

References

  1. Захарова И.Н., Дмитриева Ю.А. Хронические диареи в практике педиатра: современные подходы к диагностике. Вопросы современной педиатрии. 2011;10(6):162-5 [Zakharova IN, Dmitrieva IuA. Khronicheskie diarei v praktike pediatra: sovremennye podkhody k diagnostike. Voprosy Sovremennoi Pediatrii. 2011;10(6):162-5 (in Russian)].
  2. Thiagarajah JR, Kamin DS, Acra S, et al. Advances in Evaluation of Chronic Diarrhea in Infants. Gastroenterology. 2018;154(8):2045-59.e6. doi: 10.1053/j.gastro.2018.03.067
  3. Kotloff KL, Nataro JP, Blackwelder WC, et al. Burden and aetiology of diarrhoeal disease in infants and young children in developing countries (the Global Enteric Multicenter Study, GEMS): a prospective, case-control study. Lancet. 2013;382(9888):209-22. doi: 10.1016/S0140-6736(13)60844-2
  4. Захарова И.Н., Дмитриева Ю.А. Синдром энтероколита, индуцированного пищевыми белками (FpIEs): современные принципы диагностики и лечения на основании анализа положений международного консенсуса. Педиатрия. (Прил. к журн. Consilium Medicum). 2018;1:15-22 [Zakharova IN, Dmitrieva YuA. The syndrome of enterocolitis, induced by dietary proteins (FPIES): modern principles of diagnosis and treatment based on an analysis of the provisions of international consensus. Pediatrics (Suppl. Consilium Medicum). 2018;1:15-22 (in Russian)]. doi: 10.26442/2413-8460_2018.1.15-22
  5. Frost BL, Modi BP, Jaksic T, Caplan MS. New Medical and Surgical Insights Into Neonatal Necrotizing Enterocolitis: A Review. JAMA Pediatr. 2017;171(1):83-8. doi: 10.1001/jamapediatrics.2016.2708
  6. Terrin G, Tomaiuolo R, Passariello A, et al. Congenital diarrheal disorders: an updated diagnostic approach. Int J Mol Sci. 2012;13(4):4168-85. doi: 10.3390/ijms13044168
  7. Berni Canani R, Terrin G, Cardillo G, et al. Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management. J Pediatr Gastroenterol Nutr. 2010;50(4):360-6. doi: 10.1097/MPG.0b013e3181d135ef
  8. Passariello A, Terrin G, Baldassarre ME, et al. Diarrhea in neonatal intensive care unit. World J Gastroenterol. 2010;16(21):2664-8. doi: 10.3748/wjg.v16.i21.2664
  9. Ruemmele FM. Chronic enteropathy: molecular basis. Nestle Nutr Workshop Ser Pediatr Program. 2007;59:73-85;discussion 85-8. doi: 10.1159/000098514
  10. Swallow DM, Poulter M, Hollox EJ. Intolerance to lactose and other dietary sugars. Drug Metab Dispos. 2001;29(4 Pt. 2):513-6. PMID: 11259342
  11. Wedenoja S, Pekansaari E, Höglund P, et al. Update on SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat. 2011;32(7):715-22. doi: 10.1002/humu.21498
  12. Захарова И.Н., Майкова И.Д., Кузнецова О.А., и др. Хлоридная диарея у ребенка ٨ мес жизни. Российский вестник перинатологии и педиатрии. 2018;63(2):73-8 [Zakharova IN, Maykova ID, Kuznetsova OA, et al. Chloride diarrhea in a child 8 months old. Russian Bulletin of Perinatology and Pediatrics. 2018;63(2):73-8 (in Russian)]. doi: 10.21508/1027-4065-2018-63-2-73-78
  13. Allenspach E, Torgerson TR. Autoimmunity and Primary Immunodeficiency Disorders. J Clin Immunol. 2016;36 Suppl. 1:57-67. doi: 10.1007/s10875-016-0294-1
  14. Robayo-Torres CC, Quezada-Calvillo R, Nichols BL. Disaccharide digestion: Clinical and molecular aspects. Clin Gastroenterol Hepatol. 2006;4:276-87.
  15. Solomons NW, Viteri F, Rosenberg IH. Development of an interval sampling hydrogen (H2) breath test for carbohydrate malabsorption in children: evidence for a circadian pattern of breath H2 concentration. Pediatr Res. 1978;12(8):816-23. doi: 10.1203/00006450-197808000-00002
  16. Norio R, Perheentupa J, Launiala K, Hallman N. Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families. Clin Genet. 1971;2(3):182-92.
  17. Höglund P, Haila S, Socha J, et al. Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet. 1996;14(3):316-9. doi: 10.1038/ng1196-316
  18. Hirakawa M, Hidaka N, Kido S, et al. Congenital Chloride Diarrhea: Accurate Prenatal Diagnosis Using Color Doppler Sonography to Show the Passage of Diarrhea. J Ultrasound Med. 2015;34(11):2113-5. doi: 10.7863/ultra.15.01011
  19. Holmberg C, Perheentupa J, Launiala K, Hallman N. Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients. Arch Dis Child. 1977;52(4):255-67. doi: 10.1136/adc.52.4.255
  20. Terrin G, Tomaiuolo R, Passariello A, et al. Congenital diarrheal disorders: an updated diagnostic approach. Int J Mol Sci. 2012;13(4):4168-85. doi: 10.3390/ijms13044168
  21. Berger DS, Tancioco V, Shrivastava VK. Congenital Sodium Diarrhea: Antenatal Diagnosis May Prevent Unnecessary Surgery in the Neonate. AJP Rep. 2023;13(4):e61-4. doi: 10.1055/s-0043-1776148
  22. Ma M, Long Q, Chen F, et al. Nutrition management of congenital glucose-galactose malabsorption: Case report of a Chinese infant. Medicine (Baltimore). 2019;98(33):e16828. doi: 10.1097/MD.0000000000016828
  23. Рославцева Е.А., Варичкина М.А., Бушуева Т.В., и др. Глюкозо-галактозная мальабсорбция: патогенез, диагностика, диетотерапия. Вопросы детской диетологии. 2022;20(1):68-74 [Roslavtseva EA, Varichkina MA, Bushueva TV. Glucose-galactose malabsorption: pathogenesis, diagnosis, diet therapy. Voprosy Detskoi Dietologii. 2022;20(1):68-74 (in Russian)]. doi: 10.20953/1727-5784-2022-1-68-74
  24. Программа оптимизации вскармливания детей первого года жизни в Российской Федерации: методические рекомендации. ФГАУ «НМИЦ здоровья детей» Минздрава России. М. 2019 [Programma optimizatsii vskarmlivaniia detei pervogo goda zhizni v Rossiiskoi Federatsii: metodicheskie rekomendatsii. FGAU "NMITs zdorov’ia detei" Minzdrava Rossii. Moscow. 2019 (in Russian)].

Supplementary files

Supplementary Files
Action
1. JATS XML
Download
2. Fig. 1. Algorithm for differential diagnosis of congenital enteropathies [2].

Download (338KB)
Indexing metadata
3. Fig. 2. Appearance of a child with osmotic diarrhea (a), clinical effect during the enteral pause for 24 hours (b).

Download (150KB)
Indexing metadata
4. Fig. 3. Child's stool at admission to the hospital.

Download (58KB)
Indexing metadata
5. Fig 4. The villous structure and preserved brush border in biopsy specimens of duodenal mucosa.

Download (171KB)
Indexing metadata

Copyright (c) 2024 Consilium Medicum

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: серия ПИ № ФС 77 - 74329 от 19.11.2018 г.