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Microvillus inclusions

MedGen UID:
1800808
Concept ID:
C5558371
Finding
HPO: HP:0033995

Definition

The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes. [from HPO]

Conditions with this feature

Diarrhea 12, with microvillus atrophy
MedGen UID:
1794152
Concept ID:
C5561942
Disease or Syndrome
Microvillus inclusion disease (DIAR12) is a congenital enteropathy characterized by neonatal-onset intractable secretory diarrhea, resulting in severe dehydration and metabolic acidosis. Patients may tolerate limited enteral feeding, but are dependent on total parenteral nutrition (TPN) and require eventual small bowel and/or liver transplantation. Pathologic hallmarks include variable loss of brush-border microvilli, microvillus inclusions, and accumulation of subapical vesicles in villus enterocytes (summary by Wiegerinck et al., 2014). Another form of microvillus inclusion disease, MVID1 (DIAR2; 251850), is caused by mutation in the MYO5B gene (606540). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). Mutations in the STX3 gene that affect only isoform A (STX3A) cause DIAR12, whereas mutations in STX3 affecting both STX3A and isoform B (STX3B), which predominates in retinal tissue, cause a syndrome involving severe early-onset retinal dystrophy and MVID (RDMVID; 619446).

Professional guidelines

PubMed

Wang L, Qiu YL, Xu HM, Zhu J, Li SJ, OuYang WX, Yang YF, Lu Y, Xie XB, Xing QH, Wang JS
Liver Int 2022 Feb;42(2):402-411. Epub 2021 Nov 29 doi: 10.1111/liv.15104. PMID: 34811877
Casas-Alba D, Martínez-Monseny A, Pino-Ramírez RM, Alsina L, Castejón E, Navarro-Vilarrubí S, Pérez-Dueñas B, Serrano M, Palau F, García-Alix A
Hum Mutat 2018 Dec;39(12):1752-1763. Epub 2018 Sep 17 doi: 10.1002/humu.23638. PMID: 30176098
Katz G, Pode-Shakked B, Berkenstadt M, Bilik R, Polak Charcon S, Barshack I, Achiron R, Gilboa Y
J Ultrasound Med 2017 Jan;36(1):149-154. Epub 2016 Dec 8 doi: 10.7863/ultra.16.01097. PMID: 27933652

Recent clinical studies

Etiology

Shillingford NM, Calicchio ML, Teot LA, Boyd T, Kurek KC, Goldsmith JD, Bousvaros A, Perez-Atayde AR, Kozakewich HP
Am J Surg Pathol 2015 Feb;39(2):245-50. doi: 10.1097/PAS.0000000000000355. PMID: 25517957
Ukarapol N, Chotinaruemol S, Lertprasertsuk N, Wongsawasdi L
J Med Assoc Thai 2001 Sep;84(9):1356-60. PMID: 11800313

Diagnosis

Badawy A, Elfadul M, Aziabi M, Ageel HI, Aqeel A
Neoreviews 2020 Sep;21(9):e600-e604. doi: 10.1542/neo.21-9-e600. PMID: 32873653
Michaux G, Massey-Harroche D, Nicolle O, Rabant M, Brousse N, Goulet O, Le Bivic A, Ruemmele FM
Biol Cell 2016 Jan;108(1):19-28. Epub 2015 Dec 8 doi: 10.1111/boc.201500034. PMID: 26526116
Shillingford NM, Calicchio ML, Teot LA, Boyd T, Kurek KC, Goldsmith JD, Bousvaros A, Perez-Atayde AR, Kozakewich HP
Am J Surg Pathol 2015 Feb;39(2):245-50. doi: 10.1097/PAS.0000000000000355. PMID: 25517957
Koepsell SA, Talmon G
Am J Surg Pathol 2010 Jul;34(7):970-2. doi: 10.1097/PAS.0b013e3181e11e4b. PMID: 20505500
Schofield DE, Agostini RM Jr, Yunis EJ
Am J Clin Pathol 1992 Jul;98(1):119-24. doi: 10.1093/ajcp/98.1.119. PMID: 1319670

Prognosis

Duclaux-Loras R, Lebreton C, Berthelet J, Charbit-Henrion F, Nicolle O, Revenu des Courtils C, Waich S, Valovka T, Khiat A, Rabant M, Racine C, Guerrera IC, Baptista J, Mahe MM, Hess MW, Durel B, Lefort N, Banal C, Parisot M, Talbotec C, Lacaille F, Ecochard-Dugelay E, Demir AM, Vogel GF, Faivre L, Rodrigues A, Fowler D, Janecke AR, Müller T, Huber LA, Rodrigues-Lima F, Ruemmele FM, Uhlig HH, Del Bene F, Michaux G, Cerf-Bensussan N, Parlato M
J Clin Invest 2022 May 16;132(10) doi: 10.1172/JCI154997. PMID: 35575086Free PMC Article
Ukarapol N, Chotinaruemol S, Lertprasertsuk N, Wongsawasdi L
J Med Assoc Thai 2001 Sep;84(9):1356-60. PMID: 11800313

Clinical prediction guides

Duclaux-Loras R, Lebreton C, Berthelet J, Charbit-Henrion F, Nicolle O, Revenu des Courtils C, Waich S, Valovka T, Khiat A, Rabant M, Racine C, Guerrera IC, Baptista J, Mahe MM, Hess MW, Durel B, Lefort N, Banal C, Parisot M, Talbotec C, Lacaille F, Ecochard-Dugelay E, Demir AM, Vogel GF, Faivre L, Rodrigues A, Fowler D, Janecke AR, Müller T, Huber LA, Rodrigues-Lima F, Ruemmele FM, Uhlig HH, Del Bene F, Michaux G, Cerf-Bensussan N, Parlato M
J Clin Invest 2022 May 16;132(10) doi: 10.1172/JCI154997. PMID: 35575086Free PMC Article
Mosa MH, Nicolle O, Maschalidi S, Sepulveda FE, Bidaud-Meynard A, Menche C, Michels BE, Michaux G, de Saint Basile G, Farin HF
Cell Mol Gastroenterol Hepatol 2018;6(4):477-493.e1. Epub 2018 Aug 14 doi: 10.1016/j.jcmgh.2018.08.001. PMID: 30364784Free PMC Article
Michaux G, Massey-Harroche D, Nicolle O, Rabant M, Brousse N, Goulet O, Le Bivic A, Ruemmele FM
Biol Cell 2016 Jan;108(1):19-28. Epub 2015 Dec 8 doi: 10.1111/boc.201500034. PMID: 26526116
Knowles BC, Roland JT, Krishnan M, Tyska MJ, Lapierre LA, Dickman PS, Goldenring JR, Shub MD
J Clin Invest 2014 Jul;124(7):2947-62. Epub 2014 Jun 2 doi: 10.1172/JCI71651. PMID: 24892806Free PMC Article
Sato T, Mushiake S, Kato Y, Sato K, Sato M, Takeda N, Ozono K, Miki K, Kubo Y, Tsuji A, Harada R, Harada A
Nature 2007 Jul 19;448(7151):366-9. Epub 2007 Jun 27 doi: 10.1038/nature05929. PMID: 17597763

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