Long-term follow-up of a patient with syndromic diarrhea (tricho-hepato-enteral syndrome) with Crohn's-like syndrome

Objective. To describe a long-term follow-up of a patient with a rare genetic disease – syndromic diarrhea, or trichohepatoenteric syndrome.Results. From the first months of life, the child was diagnosed with incurable diarrhea syndrome, which led to the development of malabsorption syndrome, retardation of physical and psychomotor development. Long-term follow-up revealed the progression of malabsorption syndrome, metabolic and endocrine disorders against the background of increasing morphological changes in the intestine. Only a genetic study of the patient and his parents made it possible to formulate the final diagnosis: «Syndromic diarrhea (trichohepatoenteric syndrome, nucleotide variant g.31929071C> T homozygous in the SKIV2L gene) with crown-like syndrome».Conclusion. The combination of incurable chronic diarrhea syndrome with facial dysmorphism, skin and hair abnormalities is important for this diagnosis.

Influencing factors on the severity of clinical and laboratory manifestations of carbohydrate malabsorption syndrome in early-aged children with rotavirus infection

Purpose — to determine the role of the lactase gene MCM6 allelic polymorphism 13910 C/T and the concomitant food allergy (FA) and atopic dermatitis (AD) on the formation of carbohydrate malabsorption syndrome manifestations in early-aged children with rotavirus infection (RVI). Materials and methods. 60 children aged 1–24 months with RVI were examined. The determination of single nucleotide polymorphism 13910 C/T of the MCM6 gene was performed by real-time polymerase chain reaction and the content of total Ig E in serum was determined by enzyme immunoassay for all children on the day of hospitalization. Total amount of carbohydrates in feces (Benedict's test) and the level of lactose in feces (Malfatti's test) were also determined in the dynamics of the disease (on the 3rd, 5th, 7th, 10th day). The analysis of the carbohydrate malabsorption syndrome clinical and laboratory signs was carried out in subgroups depending on the genotype 13910 C/T of the MCM6 gene and concomitant allergic pathology. Results. No significant differences were found in the maximum daily frequency of diarrhea, its duration and the frequency of intestinal colic and flatulence registration in children with genotypes C/C, C/T and T/T -13910 of the MCM6 gene (p>0.05). There was no statistically significant difference in the total level of carbohydrates and lactose in feces at all stages of the disease (p>0.05 on the 3rd, 5th, 7th, 10th). Children with concomitant FA and AD had 1.3 and 2 times higher daily frequency of liquid bowel movements during the height of the disease (p<0.05 on the 5th and 7th days, respectively), 1.3 times longer diarrhea (p<0.05), 1.6 and 1.8 times higher incidence of flatulence and intestinal colic (p<0.05). These children had 3 and 3.3 times higher Benedict's test values (p<0.01), as well as 3 and 2.5 times higher Malfatti's test values (p<0.01; p<0.05, respectively) on the 3rd and 5th days of RVI, respectively, than in patients without allergies, with a gradual decrease in this difference during the period of convalescence (p>0.05 on the 10th day). Conclusions. The allelic polymorphism 13910 C/T of the MCM6 gene does not affect the degree of oligosaccharide metabolism disorders in the intestines in early-aged children with RVI. Against the background of concomitant food allergy and atopic dermatitis in children with RVI, there are more pronounced laboratory signs of carbohydrate malabsorption, and, as a consequence, diarrhea more pronounced during the height of the disease with a higher incidence of flatulence and intestinal colic. The research was carried out in accordance with the principles of the Helsinki declaration. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the author. Key words: rotavirus infection, early-aged children, carbohydrate malabsorption syndrome, lactase gene polymorphism, food allergy, atopic dermatitis.

Pathogenetic role of intestinal microflora in carbohydrate malabsorption syndrome in early-aged children with rotavirus infection

The aim is to evaluate the effect of metabolic activity of intestinal microflora on laboratory manifestations of carbohydrate malabsorption syndrome in early-aged children with rotavirus infection by studying the main intestinal metabolites – short-chain fatty acids in faeces. Materials and methods. 60 breastfed children with rotavirus infection aged 1–24 months were examined. The total amount of carbohydrates in faecal samples was determined using Benedict’s test, and the detection of short-chain fatty acids in faeces was carried out using liquid chromatography in the dynamics of the disease – on the 3rd, 5th and 10th day. Results. It was established, that the amount of reducing sugars in faeces decreased with the increasing concentration of intestinal microflora metabolites during the entire period of rotavirus infection. In patients with ≤0.5 % level of carbohydrates in faeces, the total content of short-chain fatty acids was the highest and exceeded by 2.0, 1.8 and 1.7 times the indicators of children with Benedict’s test values >0.5 % on the 3rd, 5th and 10th days of the disease, respectively (p < 0.05). A decrease in the metabolic activity of the intestinal microbiota in the above category of children occurred mainly due to a deficiency in the production of acetic and propionic acids (P < 0.05). In the acute period of the disease, an imbalance in the intestinal microbiota infrastructure was noted towards a deficiency of obligate anaerobes that was expressed in a decrease in the anaerobic index (P < 0.05). The severity of these disorders influenced the severity of carbohydrate malabsorption: with an increase in the level of undigested sugars in faeces >0.5 %, the anaerobic index values were 3 and 5 times lower than at a carbohydrate level ≤0.5 % on the 3rd and 5th days of the disease, respectively (P < 0.05). Conclusions. It has been found that early-aged children with rotavirus infection have structural and functional disorders of the intestinal microflora, which influence the severity of carbohydrate malabsorption syndrome. The lower the saccharolytic activity of intestinal bacteria, the more pronounced the manifestations of this syndrome during the entire period of the disease.

Characteristic of malabsorption syndrome at the modern stage

Today, the term "malabsorption syndrome" is widely used in medical practice as a general term to describe the symptoms of indigestion, absorption, and transport by the intestinal mucosa of adequately digested foods, including vitamins and trace elements, resulting in a variety of metabolic disorders.The purpose of this review is to analyze scientific data that highlight information on modern views on the etiology, mechanisms of development and clinical manifestations of malabsorption syndrome.Conclusion. Today, data on the mechanisms of development and progression of the malabsorption syndrome have been significantly expanded. This makes it possible to develop methods of prevention of the trigger factors, timely correct treatment and prevention of complications of this syndrome.

Laboratory signs of carbohydrate malabsorption in early age children with rotavirus infection

The aim – to determine the laboratory manifestations of carbohydrate malabsorption syndrome in the dynamics of rotavirus infection in early age children and to identify the factors that influence its severity. Materials and methods. The study included 60 breastfed children aged 1–24 months with rotavirus infection, who underwent pH-metry of feces, semi-quantitative determination of total carbohydrates (Benedict’s method), lactose (Malfatti method) and glucose (test systems Glucophan) in feces on the 2nd, 3rd, 5th, 7th and 10th days of the disease. Results. Carbohydrate malabsorption syndrome was observed in 98.3% of patients. The level of fecal carbohydrates increased on the second-third day to a clinically significant 0.50 [0.20; 1,50] %, reached its maximum in the midst of the disease – from the fifth to the seventh day (0.75 [0.50; 1.65] % and 0.87 [0.40; 1.65] %, respectively), decreasing during convalescence to 0.50 [0.20; 1.50] % (P < 0.05 relative to the 10th day), but remained elevated in 81.7 % of patients (P < 0.05 relative to healthy children). Lactase deficiency and glucose malabsorption (P < 0.05 relative to healthy children) were observed throughout the RVI period. At all stages of RVI there was a strong direct correlation between the total level of carbohydrates and lactose in the feces (on the second, third, fifth, seventh and tenth days r = 0.91; r = 0.86; r = 0.91; r = 0.89, respectively). The age dependence of the severity of laboratory indicators of carbohydrate malabsorption was established. Children in the first 6 months had the highest maximum levels of carbohydrates and fecal lactose – 1.75 [1.00; 2.00] % and 3.50 [2.00; 4.00] + respectively (P < 0.05 relative to 12–24 months children) and significantly higher values of these indicators in the dynamics of RVI (P < 0.05 relative to 12–24 months children) for the second-third, fifth and the tenth day). Children with concomitant food allergies, atopic dermatitis and iron deficiency anemia had 2.0 and 1.5 times higher maximum levels of carbohydrates and lactose in the stool, respectively (P < 0.05), as well as higher values of these indicators in the dynamics of the disease – on the third and fifth days (P < 0.05). Conclusions. The vast majority of young patients with rotavirus infection have carbohydrate malabsorption syndrome, which occurs from the first days of the disease and is most pronounced on the fifth to seventh day (P < 0.05 relative to the 10th day), realized mainly due to lactase deficiency. The most pronounced carbohydrate malabsorption syndrome and lactase deficiency in the dynamics of the disease are present in children of the first six months of life. Factors that increase the severity of carbohydrate malabsorption due to secondary lactase deficiency in the acute period of rotavirus infection are concomitant food allergies, atopic dermatitis and iron deficiency anemia.

Chronic enteropathy-related malabsorption syndrome in an adult with common variable immunodeficiency and symptomatic norovirus infection of the gut

Common variable immunodeficiency (CVID) causes a chronic debilitating syndrome in affected patients and often leads to high morbidity and mortality. Among its several presentations, chronic enteropathy leading to malabsorption syndrome continues to offer a major diagnostic dilemma. Lately, higher testing for norovirus infection in patients with CVID enteropathy has correlated its presence to chronic diarrhoeas, severe villous atrophy and malabsorption syndromes. There have been no such reports of its clinical and histopathological manifestations in CVID from India. Here, we demonstrate the significance of testing for norovirus in the gut with multiplex PCRs in an adult patient with a chronic undiagnosed CVID enteropathy and its response to monthly intravenous immunoglobulin (IVIG) therapy. Our patient responded after three cycles of monthly IVIG with a complete clinical recovery of his bowel functions, leading to a significant improvement in his quality of life and performance status.

Ophthalmologic evaluation in vitamin-E deficiency: A case report

A 41-year-old woman has come to our attention complaining of decreased visual acuity and monocular diplopia associated with upper and lower limb hypoesthesia. Malabsorption syndrome with vitamin A and E deficiency developed after a bariatric biliopancreatic diversion. The clinical ophthalmological signs and symptoms improved after oral vitamin supplementation therapy. The past medical history is essential in the case of a patient complaining of visual symptoms compatible with vitamin deficiency in order to detect the cause and to start a prompt therapy to avoid irreversible neurological and visual sequelae. The clinical features of our case closely resemble other cases described in the literature of patients affected by vitamin A and E deficiency secondary to malabsorption syndrome.