Congenital Microvillus Atrophy Follow-up

  • Author: Stefano Guandalini, MD; Chief Editor: Carmen Cuffari, MD   more...
 
Updated: May 11, 2012
 

Complications

Acute episodes of dehydration and metabolic decompensation are common complications. Neurological and psychological symptoms (eg, developmental delay) may be related to the hypovolemia-related temporary ischemia.[12] Impaired renal function and nephrocalcinosis may also occur. Infectious complications of the central line that result in sepsis are the most frequent causes of death, followed by liver failure.[7]

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Prognosis

The prognosis is poor. If patients are untreated, the disease is rapidly fatal because of dehydration and malnutrition.

If patients are treated with total parenteral nutrition (TPN), their prognosis entirely depends on the complications of this approach. These complications include cholestasis with subsequent liver damage leading to cirrhosis, catheter-related sepsis due to infection with bacterial or fungal agents, and progressive lack of vascular access.

The limited experience accumulated in a few centers worldwide reflects an overall survival rate of approximately 50% at 5 years after small-bowel transplantation; this is a much better outcome than is seen with other indications for intestinal transplantation.[6]

Children with late-onset congenital microvillous atrophy usually have less severe diarrhea; with age they can reduce the requirements of TPN to 1-2 per week.

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Contributor Information and Disclosures
Author

Stefano Guandalini, MD  Director, Celiac Disease Center, Chief, Section of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of Chicago Medical Center; Professor, Department of Pediatrics, Section of Gastroenterology, Hepatology and Nutrition, University of Chicago Division of the Biological Sciences, The Pritzker School of Medicine

Stefano Guandalini, MD is a member of the following medical societies: American Gastroenterological Association, European Society for Paediatric Gastroenterology, Hepatology & Nutrition, and North American Society for Pediatric Gastroenterology and Nutrition

Disclosure: Nothing to disclose.

Coauthor(s)

Agostino Nocerino, MD, PhD  Chief of Pediatric Oncology, Department of Pediatrics, University of Udine, Italy

Agostino Nocerino, MD, PhD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Chris A Liacouras  MD, Director of Pediatric Endoscopy, Division of Gastroenterology and Nutrition, Children's Hospital of Philadelphia; Associate Professor of Pediatrics, University of Pennsylvania School of Medicine

Chris A Liacouras is a member of the following medical societies: American Gastroenterological Association

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Steven M Schwarz, MD, FAAP, FACN, AGAF  Professor of Pediatrics, Children's Hospital at Downstate, State University of New York Downstate Medical Center

Steven M Schwarz, MD, FAAP, FACN, AGAF is a member of the following medical societies: American Academy of Pediatrics, American College of Nutrition, American College of Physician Executives, American Gastroenterological Association, American Pediatric Society, Gastroenterology Research Group, New York Academy of Medicine, North American Society for Pediatric Gastroenterology and Nutrition, and Society for Pediatric Research

Disclosure: Curemark, LLC Consulting fee Board membership; Centocor, Inc. Grant/research funds Independent contractor; Johnson & Johnson, Inc. Grant/research funds Independent contractor

Chief Editor

Carmen Cuffari, MD  Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

References

  1. Davidson GP, Cutz E, Hamilton JR, Gall DG. Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy. Gastroenterology. Nov 1978;75(5):783-90. [Medline].

  2. Reinshagen K, Naim HY, Zimmer KP. Autophagocytosis of the apical membrane in microvillus inclusion disease. Gut. Oct 2002;51(4):514-21. [Medline].

  3. Groisman GM, Sabo E, Meir A, Polak-Charcon S. Enterocyte apoptosis and proliferation are increased in microvillous inclusion disease (familial microvillous atrophy). Hum Pathol. Nov 2000;31(11):1404-10. [Medline].

  4. Herzog D, Atkison P, Grant D, et al. Combined bowel-liver transplantation in an infant with microvillous inclusion disease. J Pediatr Gastroenterol Nutr. May 1996;22(4):405-8. [Medline].

  5. Oliva MM, Perman JA, Saavedra JM, et al. Successful intestinal transplantation for microvillus inclusion disease. Gastroenterology. Mar 1994;106(3):771-4. [Medline].

  6. Ruemmele FM, Jan D, Lacaille F, et al. New perspectives for children with microvillous inclusion disease: early small bowel transplantation. Transplantation. Apr 15 2004;77(7):1024-8. [Medline].

  7. Ruemmele FM, Schmitz J, Goulet O. Microvillous inclusion disease (microvillous atrophy). Orphanet J Rare Dis. Jun 26 2006;1:22. [Medline].

  8. Weeks DA, Zuppan CW, Malott RL, Mierau GW. Microvillous inclusion disease with abundant vermiform, electron-lucent vesicles. Ultrastruct Pathol. Sep-Oct 2003;27(5):337-40. [Medline].

  9. Iancu TC, Mahajnah M, Manov I, Shaoul R. Microvillous inclusion disease: ultrastructural variability. Ultrastruct Pathol. May-Jun 2007;31(3):173-88. [Medline].

  10. Groisman GM, Amar M, Livne E. CD10: a valuable tool for the light microscopic diagnosis of microvillous inclusion disease (familial microvillous atrophy). Am J Surg Pathol. Jul 2002;26(7):902-7. [Medline].

  11. Youssef N, M Ruemmele F, Goulet O, Patey N. [CD10 expression in a case of microvillous inclusion disease]. Ann Pathol. Dec 2004;24(6):624-7. [Medline].

  12. Phillips AD, Schmitz J. Familial microvillous atrophy: a clinicopathological survey of 23 cases. J Pediatr Gastroenterol Nutr. May 1992;14(4):380-96. [Medline].

  13. Assmann B, Hoffmann GF, Wagner L, et al. Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?. J Inherit Metab Dis. Sep 1997;20(5):681-8. [Medline].

  14. Carruthers L, Dourmashkin R, Phillips A. Disorders of the cytoskeleton of the enterocyte. Clin Gastroenterol. Jan 1986;15(1):105-20. [Medline].

  15. Cutz E, Rhoads JM, Drumm B, et al. Microvillus inclusion disease: an inherited defect of brush-border assembly and differentiation. N Engl J Med. Mar 9 1989;320(10):646-51. [Medline].

  16. Michail S, Collins JF, Xu H, et al. Abnormal expression of brush-border membrane transporters in the duodenal mucosa of two patients with microvillus inclusion disease. J Pediatr Gastroenterol Nutr. Nov 1998;27(5):536-42. [Medline].

  17. Nathavitharana KA, Green NJ, Raafat F, Booth IW. Siblings with microvillous inclusion disease. Arch Dis Child. Jul 1994;71(1):71-3. [Medline].

  18. Pecache N, Patole S, Hagan R, et al. Neonatal congenital microvillus atrophy. Postgrad Med J. Feb 2004;80(940):80-3. [Medline].

  19. Phillips AD, Brown A, Hicks S, et al. Acetylated sialic acid residues and blood group antigens localise within the epithelium in microvillous atrophy indicating internal accumulation of the glycocalyx. Gut. Dec 2004;53(12):1764-71. [Medline].

  20. Phillips AD, Jenkins P, Raafat F, Walker-Smith JA. Congenital microvillous atrophy: specific diagnostic features. Arch Dis Child. Feb 1985;60(2):135-40. [Medline].

  21. Phillips AD, Szafranski M, Man LY, Wall WJ. Periodic acid-Schiff staining abnormality in microvillous atrophy: photometric and ultrastructural studies. J Pediatr Gastroenterol Nutr. Jan 2000;30(1):34-42. [Medline].

 
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