Congenital chloride diarrhea clinical features and management: a systematic review

Meglio, Lavinia Di; Castaldo, Giuseppe; Mosca, Caterina; Paonessa, Andrea; Gelzo, Monica; Esposito, Maria Valeria; Canani, Roberto Berni

doi:10.1038/s41390-020-01251-2

Cited by 21 publications

(14 citation statements)

References 61 publications

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“…In all our previous non-responsive patients, the step-up therapeutic approach was well-tolerated and resulted in a reduction of bowel movements and fecal Cl − losses. These results suggest that more unknown mechanisms, besides genotype-efficacy relationship, could be involved in butyrate therapeutic efficacy in CLD patients ( 4 , 8 , 10 , 12 ).…”

Section: Discussionmentioning

confidence: 84%

“…By a literature review performed on PUBMED and EMBASE, the effect of butyrate therapy has been reported in 18 CLD patients so far ( 4 , 8 , 10 , 12 , 14 , 16 – 19 ) ( Table 2 ). Just one patient was successfully treated by a step-up therapeutic approach, whereas to the other 17 patients butyrate therapy was administered starting with 100 mg/kg/day and they presented conflicting responses, and a possible genotype dependent response has been suggested ( 4 , 8 ).…”

Section: Discussionmentioning

confidence: 99%

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Step-Up Approach for Sodium Butyrate Treatment in Children With Congenital Chloride Diarrhea

et al. 2022

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ObjectivesOral salt substitutive therapy is pivotal for the survival of patients with congenital chloride diarrhea (CLD), however this therapy is unable to influence the symptoms severity. Butyrate has been proposed to limit diarrhea severity in CLD. Unfortunately, the optimal dose schedule is still largely undefined. In addition, butyrate seems not to be well-tolerated by all patients, with some subjects reporting diarrhea worsening. We investigated the efficacy of a step-up therapeutic approach with sodium butyrate in patients who experienced a diarrhea worsening or an absent improvement after the direct administration of 100 mg/kg/day of sodium butyrate.MethodsThe efficacy of a step-up therapeutic approach starting from 50 mg/Kg/day with a subsequent 25 mg/kg/day weekly increase up to 100 mg/kg/day of oral sodium butyrate was investigated in previously three unresponsive CLD children.ResultsThe step-up therapeutic approach resulted effective in limiting diarrhea severity in all our three previously unresponsive CLD patients.ConclusionsOur results suggest the efficacy of the step-up therapeutic approach in CLD children.

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Section: Discussionmentioning

confidence: 84%

Section: Discussionmentioning

confidence: 99%

Step-Up Approach for Sodium Butyrate Treatment in Children With Congenital Chloride Diarrhea

et al. 2022

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“…For this reason, an attempt was made to use ad hoc oral cholestyramine to reduce diarrhea. Studies have reported the effectiveness of cholestyramine in patients with CCD, possibly due to its ability to bind bile acids that reach the colon with increased ileal effluent and stimulation of an additional Cl − secretory response ( 13 ). Hyperhidrosis was also diagnosed in the child.…”

Section: Case Reportmentioning

confidence: 99%

“…To avoid infections that can cause life-threatening dehydration, patients with CCD should always be up to date with their vaccinations. Auxological parameters and neuropsychological development should be regularly assessed–in the study by Di Meglio et al ( 13 ), a high percentage of neuropsychomotor disturbances was found in CCD patients, without any significant genotype/phenotype relationship. Poor treatment compliance and delayed diagnosis were the two most important negative prognostic factors; high rates of failure to thrive, psychomotor delay, and renal impairment have been apprised in these patients.…”

Section: Case Reportmentioning

confidence: 99%

“…In adult patients, an important aspect of the clinical management of CCD is adequate replacement therapy, and the monitoring and treatment of intestinal and parenteral complications, such as chronic kidney disease, hyperuricemia, spermatoceles, and inflammatory bowel disease. For this reason, patients with CCD should be constantly monitored by a gastroenterologist and a nephrologist ( 13 ).…”

Section: Case Reportmentioning

confidence: 99%

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Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report

et al. 2021

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Congenital chloride diarrhea (CCD) is caused by a recessive mutation in the SLC26A3 gene and characterized mainly by watery diarrhea, hypochloremia and metabolic alkalosis. Various different mutations in SLC26A3 are responsible for the disease. In the prenatal period, the symptoms of CCD may include polyhydramnios, preterm labor and abdominal distension. The main feature of CCD is chloride-rich diarrhea, which leads to excessive loss of fluid and salt immediately after birth and is followed by weight loss and dehydration. Hyponatremia and hypochloremia are soon accompanied by hypokalemia and metabolic alkalosis. Untreated CCD is fatal even in the first weeks of life. Diagnosis is made by high fecal chloride concentrations in patients with serum electrolytes corrected by salt substitution and confirmed using genetic testing of peripheral blood samples. Here, we detail prenatal and postnatal manifestations of a preterm infant, born via Caesarian section, who was suspected to suffer intrauterine bowel obstruction. Upper median laparotomy was performed and no intestinal abnormalities found. The course of the neonatal period was complicated by severe diarrhea with hypochloremia, hyponatremia and metabolic alkalosis. Based on the patient's clinical picture and stool examination, a diagnosis of CCD was established. Mutation of the SLC26A3 gene was confirmed using genetic testing.

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Two cases of microvillus inclusion disease caused by MYO5B deficiency with prenatal abnormalities

Lü

Ding

et al. 2021

Prenatal Diagnosis

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Backgrounds: Microvillus inclusion disease (MVID) characterizes as intractable lifethreatening watery diarrhea malnutrition after birth.Materials & Methods: Here we describe two patients with prenatal ultrasound findings of bowel dilation or increased amniotic fluid volume presented intractable diarrhea after birth. Exome sequencing and Intestinal biopsy were performed for the patients and their parents to reveal the underlying causes. The mutations were verified by Sanger sequencing and quantitative polymerase chain reaction.Results: Exome sequencing revealed that both of the patients carrying MYO5B compound heterozygote mutations that were inherited from their parents. Conclusion:Here we describe two cases with MVID caused by MYO5B deficiency, which was the most common caused with prenatal ultrasound findings of bowel dilation and increased amniotic fluid volume. Due to the lack of effective curative therapies, early diagnosis even in prenatal of MVID can provide parents with better genetic counseling on the fetal prognosis. Key pointsWhat's already known about this topic? � Microvillus inclusion disease (MVID) is characterized by intractable life-threatening watery diarrhea and malnutrition after birth and lacks effective treatment. What does this study add?� Previous cases have reported infantile diarrhea syndrome after birth in cases of MVID. In the two cases presented here, both fetuses presented with generalized bowel dilation and increased amniotic fluid volume, which mimicked intestinal obstruction on the prenatal ultrasound. These cases expand the prenatal phenotype profile of MIVD. | INTRODUCTIONMicrovillus inclusion disease (MVID) is characterized as intractable life-threatening watery diarrhea and malnutrition after birth, and patients with MVID have a high rate of death before 9 months of age. 1 MVID is classified as early one-set (occurring after birth) or late one-set (occurring at 3 or 4 months of age) depends on the time of onset of the diarrhea. Recent studies have found that MVID is ascribed to MYO5B, STX3, and STXBP2 deficiencies. 2 Here, we report two patients who both presented with bowel dilation and increased amniotic fluid volume on prenatal ultrasound and had MVID and MYO5B compound heterozygote mutations. | CLINICAL PRESENTATIONCase 1 is a 2-day-old neonate transferred to our hospital for metabolic acidosis, dehydration, electrolyte disturbances, and jaundice. She was 136 -Prenatal Diagnosis.

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Congenital chloride diarrhea clinical features and management: a systematic review

Cited by 21 publications

References 61 publications

Step-Up Approach for Sodium Butyrate Treatment in Children With Congenital Chloride Diarrhea

Step-Up Approach for Sodium Butyrate Treatment in Children With Congenital Chloride Diarrhea

Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report

Two cases of microvillus inclusion disease caused by MYO5B deficiency with prenatal abnormalities

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