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

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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.

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Yulia Dmitrieva

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

编辑信件的主要联系方式.
Email: jadmitrieva@mail.ru
ORCID iD: 0000-0003-0668-7336

Cand. Sci. (Med.)

俄罗斯联邦, Moscow; Moscow

Irina Zakharova

Russian Medical Academy of Continuous Professional Education

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

D. Sci. (Med.), Prof.

俄罗斯联邦, Moscow

Aliya Miyanova

Russian Medical Academy of Continuous Professional Education

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

Graduate Student

俄罗斯联邦, Moscow

Ekaterina 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.)

俄罗斯联邦, Moscow; Moscow

Zhanna Polyakova

Bashlyaeva Children's City Clinical Hospital

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

gastroenterologist

俄罗斯联邦, Moscow

Margarita Menshikova

Bashlyaeva Children's City Clinical Hospital

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

Department Head

俄罗斯联邦, Moscow

Sergei Piliutik

Bashlyaeva Children's City Clinical Hospital

Email: jadmitrieva@mail.ru

Department Head

俄罗斯联邦, Moscow

参考

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2. Fig. 1. Algorithm for differential diagnosis of congenital enteropathies [2].

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

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4. Fig. 3. Child's stool at admission to the hospital.

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5. Fig 4. The villous structure and preserved brush border in biopsy specimens of duodenal mucosa.

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