Congenital microvillous atrophy: specific diagnostic features.

Phillips, Alan D.; Jenkins, P; Raafat, F.; Walker-Smith, J A

doi:10.1136/adc.60.2.135

Cited by 131 publications

(99 citation statements)

References 9 publications

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“…Microvillus inclusion disease is a congenital enteropathy of intractable diarrhea. Both the molecular defect and the pathophysiology of this disease are unclear, but its main feature includes villus atrophy, loss of microvilli, and the presence of intracytoplasmic inclusions, vacuoles containing brush-border-like microvilli called microvilli inclusions (29). More recently, it has been shown that decreased expression of apical membrane transporters such as NHE-2, NHE-3, and sodium glucose transporter is observed in microvillus inclusion disease samples (30).…”

Section: Discussionmentioning

confidence: 99%

Proteomic Characterization of Isolated Retinal Pigment Epithelium Microvilli

Bonilha

Bhattacharya

West

et al. 2004

Molecular & Cellular Proteomics

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Polarized epithelial cells are characterized by displaying compartmentalized functions associated with differential distribution of transporters, structural proteins, and signaling molecules on their apical and basolateral surfaces. Their apical surfaces frequently elaborate microvilli, which vary in structure according to the specific type and function of each epithelium. The molecular basis of this heterogeneity is poorly understood. However, differences in function will undoubtedly be reflected in the specific molecular composition of the apical surface in each epithelial subtype. We have exploited a method for isolating microvilli from the mouse eye using wheat germ agglutinin (WGA)-agarose beads to begin to understand the specific molecular composition of apical microvilli of the retinal pigment epithelium (RPE) and expand our knowledge of the potential function of this interface. Initially, apical RPE plasma membranes bound to WGA beads were processed for morphological analysis using known apical and basolateral surface markers. The protein composition of the apical microvilli was then established using proteomic analysis. Over 200 proteins were identified, including a number of proteins previously known to be localized to RPE microvilli, as well as others not known to be present at this surface. Localization of novel proteins identified with proteomics was confirmed by immunohistochemistry in both mouse and rat eye tissue. The data generated provides new information on the protein composition of the RPE apical microvilli. The isolation technique used should be amenable for isolating microvilli in other epithelia as well, allowing new insights into additional functions of this important epithelial compartment. Molecular & Cellular Proteomics 3:1119 -1127, 2004.Epithelial cells are characterized by the asymmetric distribution of proteins and lipids in their plasma membrane: a basic feature referred to as polarity. The functional polarity of epithelial cells is dependent on the asymmetric distribution of specific enzymes, signaling molecules, and transport proteins between their apical and basolateral surface membranes (1). The apical surface of cuboidal and columnar epithelial cells commonly faces a luminal cavity and is characterized by the presence of numerous surface membrane elaborations referred to as microvilli. Microvilli greatly increase the apical surface area and, consequently, the number of transport and signaling proteins it contains, thereby enhancing the epithelial functional capacity. Absorptive epithelia such as kidney and intestine have their apical surface decorated with highly organized apical microvilli of uniform length and width. More dynamic and less organized structures are present in the epithelial cells of the placenta and the retinal pigment epithelium (RPE), 1 which perform endocytosis and phagocytosis, respectively. The basis of this morphological heterogeneity is poorly understood and is likely to be related to the specialized function and specific molecular composition of the ...

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Section: Discussionmentioning

confidence: 99%

Proteomic Characterization of Isolated Retinal Pigment Epithelium Microvilli

Bonilha

Bhattacharya

West

et al. 2004

Molecular & Cellular Proteomics

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“…In the present study, we referred to group I as 'immune enteropathy group' because it has been suggested that the specific histological findings (in terms of villous atrophy, crypt hyperplasia, and cellular infiltration of the lamina propria) be associated with a T-cell activation mechanism (8,(16)(17)(18)(19)(20). Group II was referred to as 'epithelial dysplasia group' by adding microvillous inclusion disease, microvillous dysplasia, and microvillous atrophy to this group, because this represented histological dysplasia and familial conditions seen in group II in European study (3,15,(21)(22)(23)(24). In a recent study, 29% of children affected by intractable diarrhea with persistent villous atrophy (immune enteropathy group) fulfilled the criteria of autoimmune enteropathy (8).…”

Section: Discussionmentioning

confidence: 99%

“…Microvillous atrophy/inclusion disease can be recognized by performing periodic acid-Schiff stain and electron microscopy (3,10). Four cases of microvillous inclusion disease included in the epithelial dysplasia group have already been published (35,36).…”

Section: Discussionmentioning

confidence: 99%

Protracted Diarrhea: Results of the Five-year Survey in a Tertiary Hospital in Korea

2001

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The syndrome of protracted diarrhea (PD) includes several diseases with diverse etiologies. This study was conducted to characterize the spectrum of causes, clinical manifestations, and the outcomes of PD. A retrospective analysis of the clinical and pathological findings was performed on 25 patients with diarrhea starting within the first 2 yr of life and a requirement of parenteral nutrition (PN). According to the intestinal histopathology, patients were classified into four groups: immune enteropathy (12 cases), lymphangiectasia (6 cases), epithelial dysplasia (5 cases), and unclassified (2 cases). All patients with epithelial dysplasia had earlier onset of diarrhea and longer duration of PN than those in the other groups. Three patients (12%) had an evidence of a familial condition. Five patients (three with microvillous inclusion disease and two with immune enteropathy) died. Sixteen patients recovered, and three (two with primary lymphangiectasia and one with microvillous inclusion disease) still had diarrhea. One patient underwent intestinal transplantation for tufting enteropathy. In conclusion, infants with PD should be referred to specialized centers where advanced diagnostic and therapeutic facilities are available, because histological analysis is critical for the diagnosis of PD, and PN or intestinal transplantation is the only therapeutic option in a subset of cases.

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“…Fue descrito por primera vez en 1978 por David Andersen et al quien reportó un grupo de 5 lactantes con diarrea persistente severa de inicio neonatal y hallazgos característicos comunes en la histología intestinal 1,2 . Actualmente se estima su prevalencia en < 1:1.000.000 y hay pocos casos conocidos en el mundo 3 .…”

Section: Introductionunclassified

Enfermedad por inclusión microvellositaria como causa de diarrea congénita severa. Caso clínico

Schoen

Puchi

González

et al. 2017

Rev. chil. pediatr.

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Palabras clave:Diarrea refractaria del lactante; Insuficiencia intestinal; Enfermedad por inclusión microvellositaria ResumenIntroducción: Las diarreas congénitas son patologías graves de baja frecuencia y alta mortalidad. Se manifiestan durante los primeros días o meses de vida con severa diarrea, generando insuficiencia intestinal y dependencia de nutrición parenteral. Se debe sospechar ante un recién nacido o lactante con pérdidas masivas hidroelectrolíticas, y se diagnostican utilizando parámetros clínicos, endoscó-picos, histológicos y eventualmente genéticos. El tratamiento es de soporte, con reposición hidroelectrolítica intensa y nutricional. Objetivo: Presentar un caso de diarrea congénita, identificada como Enfermedad por Inclusión Microvellositaria, de presentación neonatal. Caso clínico: Paciente varón edad actual 3 años, hijo de padres consanguíneos, quien debutó a los 10 días de vida con diarrea secretora severa, requiriendo ingreso a unidad de paciente crítico y nutrición parenteral permanente. Inicialmente además con síndrome de Fanconi, que luego se recupera. Se confirmó la sospecha de Enfermedad de Inclusión Microvellositaria utilizando microscopia óptica, electrónica e inmunohistoquímica. Se obtuvo una favorable evolución utilizando nutrición parenteral total (NPT) a domicilio. Conclusiones: Se presenta el primer caso conocido en Chile de un paciente con diarrea congénita por inclusión microvellositaria manejado y su evolución. 663 CASO CLínICO IntroducciónLa Enfermedad por Inclusión Microvellositaria pertenece al grupo de las diarreas refractarias del lactante menor que producen insuficiencia intestinal durante los primeros días o meses de vida. Se genera por una alteración congénita severa del epitelio intestinal resultando en diarrea acuosa masiva y malabsorción permanente que lleva habitualmente a la dependencia de nutrición parenteral total (NPT) durante toda la vida.Fue descrito por primera vez en 1978 por David Andersen et al. quien reportó un grupo de 5 lactantes con diarrea persistente severa de inicio neonatal y hallazgos característicos comunes en la histología intestinal 1,2 . Actualmente se estima su prevalencia en < 1:1.000.000 y hay pocos casos conocidos en el mundo 3 . Se reconoce una herencia de tipo autosómica recesiva y se asocia a consanguinidad 4 . Hay leve preponderancia del sexo femenino. El embarazo y el parto en general ocurren sin patología asociada, aunque se ha descrito oligohidroamnios en algunos casos.Existe una presentación neonatal con inicio precoz durante las primeras horas o días de vida y una de aparición más tardía a los 2-3 meses 3 . La clínica se caracteriza por diarrea acuosa severa de tipo secretora con pérdidas masivas de volúmenes de hasta 300 ml/kg/día y grandes cantidades de electrolitos generando rápida-mente la deshidratación y desequilibrios metabólicos graves. Además, existe un déficit enzimático en el borde luminal que genera diarrea osmótica agregada.Dentro de los diagnósticos diferenciales hay que considerar otras causas de diarrea intratable...

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Congenital microvillous atrophy: specific diagnostic features.

Cited by 131 publications

References 9 publications

Proteomic Characterization of Isolated Retinal Pigment Epithelium Microvilli

Proteomic Characterization of Isolated Retinal Pigment Epithelium Microvilli

Protracted Diarrhea: Results of the Five-year Survey in a Tertiary Hospital in Korea

Enfermedad por inclusión microvellositaria como causa de diarrea congénita severa. Caso clínico

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