Microvillous Inclusion Disease as a Cause of Protracted Diarrhea

Phulware, Ravi Hari; Gahlot, Gaurav Pratap Singh; Malik, Rohan; Gupta, Siddhartha Datta; Das, Prasenjit

doi:10.1007/s12098-019-02963-y

Cited by 4 publications

(3 citation statements)

References 5 publications

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“…Oral rehydration solution (glucose-mediated sodium absorption) is ineffective because of the absence of brush border SGLT-1. Patients with MVID typically require life-long total parenteral nutrition (TPN), also known as hyperali-mentation, to compensate for fecal fluid and salt losses and provide nutrients to support growth [22]. Intestinal transplantation is an option [23], but only for specific cases because of its lower 5-year survival rate (≈60%).…”

Section: Current Treatment Of Mvidmentioning

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: Current Treatment Of Mvidmentioning

confidence: 99%

Pharmacological and Parenteral Nutrition-Based Interventions in Microvillus Inclusion Disease

Leng

Rings

IJzendoorn

2020

JCM

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“…In his publication, Sidhaye, et al [ 73 ] discovered that zebrafish exhibited cellular attributes of human microvillus inclusion disease. The MVID investigated by researchers revealed microvilli atrophy, metabolic acidosis, and diarrhea [ 71 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 ]. Likewise, in our experiment, samples from the Predict_A and Predict_B groups revealed the same anomalies of microvilli atrophy, signs of metabolic acidosis, and nutrient loss.…”

Section: Discussionmentioning

confidence: 99%

Experimental Studies on the Impact of the Projected Ocean Acidification on Fish Survival, Health, Growth, and Meat Quality; Black Sea Bream (Acanthopagrus schlegelii), Physiological and Histological Studies

Tegomo

Zhong

Njomoue

et al. 2021

Animals

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Acidification (OA), a global threat to the world’s oceans, is projected to significantly grow if CO2 continues to be emitted into the atmosphere at high levels. This will result in a slight decrease in pH. Since the latter is a logarithmic scale of acidity, the higher acidic seawater is expected to have a tremendous impact on marine living resources in the long-term. An 8-week laboratory experiment was designed to assess the impact of the projected pH in 2100 and beyond on fish survival, health, growth, and fish meat quality. Two projected scenarios were simulated with the control treatment, in triplicates. The control treatment had a pH of 8.10, corresponding to a pCO2 of 321.37 ± 11.48 µatm. The two projected scenarios, named Predict_A and Predict_B, had pH values of 7.80-pCO2 = 749.12 ± 27.03 and 7.40-pCO2 = 321.37 ± 11.48 µatm, respectively. The experiment was preceded by 2 weeks of acclimation. After the acclimation, 20 juvenile black sea breams (Acanthopagrus schlegelii) of 2.72 ± 0.01 g were used per tank. This species has been selected mainly due to its very high resistance to diseases and environmental changes, assuming that a weaker fish resistance will also be susceptibly affected. In all tanks, the fish were fed with the same commercial diet. The seawater’s physicochemical parameters were measured daily. Fish samples were subjected to physiological, histological, and biochemical analyses. Fish growth, feeding efficiency, protein efficiency ratio, and crude protein content were significantly decreased with a lower pH. Scanning electron microscopy revealed multiple atrophies of microvilli throughout the small intestine’s brush border in samples from Predict_A and Predict_B. This significantly reduced nutrient absorption, resulting in significantly lower feed efficiency, lower fish growth, and lower meat quality. As a result of an elevated pCO2 in seawater, the fish eat more than normal but grow less than normal. Liver observation showed blood congestion, hemorrhage, necrosis, vacuolation of hepatocytes, and an increased number of Kupffer cells, which characterize liver damage. Transmission electron microscopy revealed an elongated and angular shape of the mitochondrion in the liver cell, with an abundance of peroxisomes, symptomatic of metabolic acidosis.

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“…It is caused by a severe congenital alteration of the intestinal epithelium resulting in massive watery diarrhoea and permanent malabsorption, usually leading to dependence on total parenteral nutrition (TPN) [1]. Although the disease is rare and only about 200 cases of IDMC have been reported, it is more common in countries where consanguineous marriages are common [2]. MVID is characterized by defective transport of plasma membrane proteins to the apical brush border, due to mutations of MYO5B gene on the chromosome 18q21, encoding myosin Vb motor and a small GTP-binding protein, Rab8 [3].…”

Section: Introductionmentioning

confidence: 99%

A rare cause of neonatal diarrhoea: Microvillositary inclusion disease: about a case report

Akhrif¹,

Sabib²,

Rouas³

et al. 2021

J Adv Pediatr Child Health

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Microvillositary inclusion disease also known as microvillositary atrophy is a rare congenital enteropathy containing a border abnormality in the brushes of enterocytes, manifesting as severe rebellious diarrhea in newborns and infants. It was first described in 1978 by Davidson, et al. The autosomal recessive mode of transmission is suggested because of the frequency of familial cases and inbreeding. Histopathology plays an essential role in establishing the diagnosis. In 2008, a common mutation was identified in most of the patients studied in the MYO5B gene that codes for the Myosin Vb protein, which helped in understanding the etiopathogeny of this pathology poorly described in the literature. The prognosis for this pathology is extremely bleak, requiring total parenteral nutrition for child survival. Intestinal transplantation is for the moment the only long-term solution. Materials and methods: We report the case of an infant aged 6 months, with no perinatal antecedent. There is 1st degree consanguinity, the mother has a history of deaths in younger siblings in undetermined circumstances. Who since the age of 3 days presents profuse liquid diarrhoea with malnutrition, dehydration and enormous abdominal distension? Several diagnoses were suspected before the jejune biopsy was carried out, which led to the diagnosis of a microvilliositary inclusion disease. The aim of our work is to highlight the rarest cause of neonatal rebel diarrhoea and to know how to include it among other differential diagnoses.

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Microvillous Inclusion Disease as a Cause of Protracted Diarrhea

Cited by 4 publications

References 5 publications

Pharmacological and Parenteral Nutrition-Based Interventions in Microvillus Inclusion Disease

Pharmacological and Parenteral Nutrition-Based Interventions in Microvillus Inclusion Disease

Experimental Studies on the Impact of the Projected Ocean Acidification on Fish Survival, Health, Growth, and Meat Quality; Black Sea Bream (Acanthopagrus schlegelii), Physiological and Histological Studies

A rare cause of neonatal diarrhoea: Microvillositary inclusion disease: about a case report

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