MYO5B Mutations in Patients With Microvillus Inclusion Disease Presenting With Transient Renal Fanconi Syndrome

• DOI: 10.1097/mpg.0b013e3182353773
• Publication Date: 2011-10-04T20:58:48Z
• Authors: Magdalena R. Gola...; Carin M.L. van Dael; Hilda Keuning; Arend Karrenbeld; Dick Hoekstra; Carolien F.M. Gij...; Marc A. Benninga; Edmond H.H.M. Rings; Sven C.D. van IJz...
• Keywords: Microvillus; Brush border; Fanconi syndrome; Apical membrane

ABSTRACT Background and Objective: Microvillus inclusion disease (MVID) is a rare congenital enteropathy associated with brush border atrophy reduced expression of enzymes at the enterocytes' apical surface. MVID mutations in MYO5B gene, which expressed all epithelial tissues. Whether organs other than intestine are affected unclear. We report 2 patients that developed renal Fanconi syndrome while receiving total parenteral nutrition. Renal has been correlated to plasma membrane defects kidney proximal tubular cells. The aim present study was determine whether these correlate similar cells as observed intestine. Methods: Biopsies from kidney, duodenum, ileum, jejunum, colon carrying age‐matched controls were fixed paraffin analyzed immunohistochemistry transmission electron microscopy. Results: Structural recycling endosome organization enterocytes segments small colon. do not aberrant morphology or altered Conclusions: have divergent effects on system intestinal Epithelial presented therefore likely triggered by intestine‐specific factors, identification may provide new targets open avenues for development alternative therapeutic strategies combat this devastating disease.