Extraintestinal manifestations in an infant with microvillus inclusion disease: Complications or features of the disease?

European Journal of Pediatrics

Volumn 172, Issue 9, 2013, Pages 1271-1275

  Siahanidou, Tania ^a   Koutsounaki, Eirini ^a   Skiathitou, Anna Venetia ^a   Stefanaki, Kalliopi ^b   Marinos, Evangelos ^a   Panajiotou, Ioanna ^a   Chouliaras, Giorgos ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

Hematuria; Liver disease; Lung; MVID; Myosin Vb; Neonatal diarrhea; Pneumocystis jiroveci

Indexed keywords

ANTIFUNGAL AGENT; ANTIINFECTIVE AGENT; COTRIMOXAZOLE; MYOSIN V; MYOSIN VB; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; DIARRHEA; DIFFERENTIAL DIAGNOSIS; DUODENUM BIOPSY; ENTEROPATHY; FEMALE; GASTROSCOPY; GENE MUTATION; GENETIC ANALYSIS; HEMATURIA; HUMAN; HUMAN TISSUE; LIVER DYSFUNCTION; MICROVILLUS INCLUSION DISEASE; NEWBORN; PATHOPHYSIOLOGY; PNEUMOCYSTIS PNEUMONIA; PRIORITY JOURNAL; SIGMOIDOSCOPY; TOTAL PARENTERAL NUTRITION;

FATAL OUTCOME; FEMALE; HEMATURIA; HEPATIC INSUFFICIENCY; HUMANS; INFANT, NEWBORN; MALABSORPTION SYNDROMES; MICROVILLI; MUCOLIPIDOSES; PNEUMOCYSTIS JIROVECII; PNEUMONIA, PNEUMOCYSTIS;

EID: 84887607776     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-013-1948-0     Document Type: Article

References (13)

1. Cutz E, Sherman PM, Davidson GP (1997) Enteropathies associated with protracted diarrhea of infancy: clinicopathological features, cellular and molecular mechanisms. Pediatr Pathol LabMed 17:335-368
2. Fan GH, Lapierre LA, Goldenring JR, Sai J, Richmond A (2004) Rab11-family interacting protein 2 and myosin Vb are required for CXCR2 recycling and receptor-mediated chemotaxis. Mol Biol Cell 15:2456-2469
3. Golachowska M, van Dael C, Keuning H, Karrenbeld A, Hoekstra D, Gijsbers C, Benninga M, Rings E, Ijzendoorn S (2012) Myo5b mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome. J Pediatr Gastroenterol Nutr 54:491-498
4. Halac U, Lacaile F, Joly F, Hugot JP, Talbotec C, Colomb V, Ruemmele FM, Goulet O (2011) Microvillous inclusion disease: how to improve the prognosis of a severe congenital enterocyte disorder. J Pediatr Gastroenterol Nutr 52:460-465
5. Kelly DA (2010) Preventing parenteral nutrition liver disease. Early Hum Dev 86:683-687
6. Lapierre LA, Kumar R, Hales CM, Navarre J, Bhartur SG, Burnette JO, Provance DW Jr, Mercer JA, Bahler M, Goldenring JR (2001) Myosin vb is associated with plasma membrane recycling systems. Mol Biol Cell 12:1843-1857
7. Müller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P, Ponstingl H, Partsch J, Rollinghoff B, Kohler H, Berger T, Lenhartz H, Schlenck B, Houwen RJ, Taylor CJ, Zoller H, Lechner S, Goulet O, Utermann G, Ruemmele FM, Huber LA, Janecke AR (2008) MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet 40:1163-1165
8. Pan W, Borovac J, Spicer Z, Hoenderop JG, Bindels RJ, Shull GE, DoschakMR, Cordat E, Alexander RT (2012) The epithelial sodium/ proton exchanger, NHE3, is necessary for renal and intestinal calcium (re)absorption. Am J Physiol Renal Physiol 302:F943-F956
9. Phillps AD, Schmitz J (1992) Familial microvillous atrophy: a clinicopathological survey of 23 cases. J Pediatr Gastroenterol Nutr 14:380-396
10. Ruemmele FM, Schmitz J, Goulet O (2006) Microvillous inclusion disease (microvillous atrophy). Orphanet J Rare Dis 1:22
11. Swiatecka-Urban A, Talebian L, Kanno E, Moreau-Marquis S, Coutermarsh B, Hansen K, Karlson KH, Barnaby R, Cheney RE, Langford GM, Fukuda M, Stanton BA (2007) Myosin Vb is required for trafficking of the cystic fibrosis transmembrane conductance regulator in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells. J Biol Chem 282:23725-23736
12. Terrin G, Tomaiuolo R, Passariello A, Elce A, Amato F, Di Costanzo M, Castaldo G, Canani RB (2012) Congenital diarrheal disorders: an updated diagnostic approach. Int J Mol Sci 13:4168-4185
13. Wakabayashi Y, Dutt P, Lippincott-Schwartz J, Arias IM (2005) Rab11a and myosin Vb are required for bile canalicular formation in WIF-B9 cells. Proc Natl Acad Sci U S A 102:15087-15092