Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea

Canani, Roberto Berni; Terrin, Gianluca; Elce, Ausilia; Pezzella, Vincenza; Heinz‐Erian, Peter; Pedrolli, Annalisa; Centenari, Chiara; Amato, Felice; Tomaiuolo, Rossella; Calignano, Antonio; Troncone, Riccardo; Castaldo, Giuseppe

doi:10.1186/1750-1172-8-194

Cited by 33 publications

(25 citation statements)

References 29 publications

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“…These can differently affect the encoded myosin Vb protein and, conceivably, brush border protein localization and drug response. A genotype-dependency for the therapeutic efficacy of butyrate was recently reported in CCD patients [ 63 ]. Future genotype–phenotype correlation studies may shed light on and help predicting treatment responses.…”

Section: Discussion and Future Perspectivesmentioning

confidence: 99%

Pharmacological and Parenteral Nutrition-Based Interventions in Microvillus Inclusion Disease

Leng

Rings

IJzendoorn

2020

JCM

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Microvillus inclusion disease (MVID) is a rare inherited and invariably fatal enteropathy, characterized by severe intractable secretory diarrhea and nutrient malabsorption. No cure exists, and patients typically die during infancy because of treatment-related complications. The need for alternative treatment strategies is evident. Several pharmacological interventions with variable successes have been tried and reported for individual patients as part of their clinical care. Unfortunately, these interventions and their outcomes have remained hidden in case reports and have not been reviewed. Further, recent advances regarding MVID pathogenesis have shed new light on the outcomes of these pharmacological interventions and offer suggestions for future clinical research and trials. Hence, an inventory of reported pharmacological interventions in MVID, their rationales and outcomes, and a discussion of these in the light of current knowledge is opportune. Together with a discussion on MVID-specific pharmacokinetic, -dynamic, and -genetic concerns that pose unique challenges regarding pharmacological strategies, we envision that this paper will aid researchers and clinicians in their efforts to develop pharmacological interventions to combat this devastating disease.

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Section: Discussion and Future Perspectivesmentioning

confidence: 99%

Pharmacological and Parenteral Nutrition-Based Interventions in Microvillus Inclusion Disease

Leng

Rings

IJzendoorn

2020

JCM

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“…Adequate butyrate can suppress over-growth of pathogenic bacteria and reinforce the intestinal defense barrier. ( 36 – 38 ) This protection against gastrointestinal diseases might be mediated by modulating transepithelial ion transport, ( 39 ) reducing oxidative damage to DNA, and apoptosis induction in DNA-damaged cells. ( 40 , 41 ) Butyrate is primarily supplied by butyrate-producing bacteria in vivo , specifically the Clostridium genera of Firmicutes .…”

Section: Discussionmentioning

confidence: 99%

Vitamin A deficiency impacts the structural segregation of gut microbiota in children with persistent diarrhea

Wang

Yang

et al. 2016

J. Clin. Biochem. Nutr.

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To investigate whether gut microbiota is associated with vitamin A nutritional levels in children with persistent diarrhea, a total of 59 pediatric patients with persistent diarrhea aged 1–12 months were selected from the Department of Gastroenterology at the Children’s Hospital of Chongqing Medical University, China. Subjects were hospitalized and divided into VA-deficient (n = 30) and VA-normal (n = 29) groups according to their venous serum retinol levels. Fecal samples from all 59 subjects were collected immediately after admission and analyzed by Illumina MiSeq for 16S rRNA genes to characterize the overall microbiota of the samples. The gut microbiota of the VA-deficient and VA-normal groups were compared using a bioinformatic statistical approach. The Shannon index (p = 0.02), Simpson index (p = 0.01) and component diagram data indicated significantly lower diversity in the VA-deficient than the VA-normal group. A metagenome analysis (LEfSe) and a differentially abundant features approach using Metastats revealed that Escherichia coli and Clostridium butyricum were the key phylotypes of the VA-normal group, while Enterococcus predominated the VA-deficient group. In conclusion, the diversity of gut microbiota and the key phylotypes are significantly different in children with persistent diarrhea at different VA nutritional levels.

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“…Others tried butyrate with promising results in some populations. [49–51] None of our patients was tried on any of them due to unavailability in our center.…”

Section: Discussionmentioning

confidence: 99%

Congenital chloride losing diarrhea

Kamal

Khan²,

El-Shabrawi

et al. 2019

Medicine

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Congenital chloride losing diarrhea (CCLD) is a rare type of chronic watery diarrhea due to mutations in SLC26A3 gene leading to defective chloride–bicarbonate exchanges with the resultant loss of chloride and retention of bicarbonate. We aim to define pediatric Saudi CCLD patients’ characteristics to achieve prompt diagnosis, management, follow up with good quality of life, and prevention of complications in these patients. We carried retrospective data review of demographic, clinical, laboratory, radiographic, and outcome of all pediatric patients fulfilling the criteria of CCLD over 10 years from 2004 to 2014 from a single center in Taif region, Saudi Arabia. Forty-nine patients fulfilled the criteria of CCLD from 21 families with more than one affected patient in the same family in 90% of them and positive consanguinity in 91% of the cohort. Most patients were born preterm with intrauterine growth restriction and usually neonatal intensive care unit (NICU) admissions with prematurity and its complications. Thirteen patients were discharged without diagnosis of CCLD and 3 were misdiagnosed as intestinal obstruction with unnecessary surgical intervention. Many complications do existed with renal complications being the most common with three patients received renal transplantation. Prematurity with abdominal distension and stool like urine were the commonest presentation of CCLD in Saudi children. Positive consanguinity and more than one affected sibling are present in most of our cohort. High index of suspicion by clinicians is a cornerstone for early diagnosis with subsequent favorable outcome. A multicenter national incidence study of CCLD in KSA and its genetic attributes is recommended. Premarital screening should be implemented specially for consanguineous marriage.

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Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea

Cited by 33 publications

References 29 publications

Pharmacological and Parenteral Nutrition-Based Interventions in Microvillus Inclusion Disease

Pharmacological and Parenteral Nutrition-Based Interventions in Microvillus Inclusion Disease

Vitamin A deficiency impacts the structural segregation of gut microbiota in children with persistent diarrhea

Congenital chloride losing diarrhea

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