Özge SÜRMELİ ONAY, Ayşe Neslihan TEKİN, Ozge AYDEMİR, Damla GUNES, Sevilhan ARTAN, Yusuf AYDEMİR

Mikrovillus İnkluzyon Hastalığı’nda Mezenkimal Kök Hücreler Bir Tedavi Seçeneği Olabilir mi?

Mikrovillus inklüzyon hastalığı (MİH), Miyosin 5B genindeki mutasyonlara bağlı oluşan sekretuvar ve osmotik diyare ile seyreden hayatı tehdit edici bir hastalıktır. Mezenkimal kök hücre (MKH) tedavisi intestinal yetmezlikte sınırlı sayıda olguda uygulanmıştır ancak MİH’de sadece hayvan çalışmaları bulunmaktadır. Altı günlük erkek bebek postnatal 2. günde başlayan, ishal, metabolik asidoz ve hiponatremi nedeniyle yenidoğan yoğun bakım ünitemize kabul edildi. 36 hafta 4 günlük, 2960 g olarak doğan bebeğin diyareye bağlı iki kardeş ölüm öyküsü vardı. Olgumuzda MYO5B geninde homozigot mutasyon tespit edildi. Enteral beslenme kesilerek total parenteral beslenme başlandı. Bebeğin yüksek sıvı (350 cc/kg/gün), sodyum (20-25 meq/kg/gün) ve bikarbonat (12-18 meq/kg/gün) ihtiyacı mevcuttu. Postnatal 110. gününde hastaya MKH tedavisi (1x106 Ü transduodenal ve 2x106 Ü IV) uygulandı. Kök hücre tedavisi sonrası her ne kadar sıvı ve elektrolit gereksinimleri azalmasa da sepsis sıklığında azalma gözlendi. Bebek 20 aylıkken kadavradan ince barsak nakli yapıldı, ancak nakilden bir ay sonra sepsis nedeniyle eksitus oldu.

Anahtar Kelimeler:

Yenidoğan;, mikrovillus inkluzyon hastalığı, mezenkimal kök hücre, tedavi

Microvillus Inclusion Disease: Can Mesenchymal Stem Cells Be a Potential Treatment Option?

Microvillus inclusion disease (MVID; MIM #251850), is a rare life-threatening secretory and malabsorptive diarrhea of infancy due to mutations in the MYO5B gene. A 6-day-old male patient was referred to our neonatal intensive care unit for profuse diarrhea beginning on the 2nd day of life causing 17% weight loss, metabolic acidosis and hyponatremia. Our patient had a homozygous mutation in the MYO5B gene. On 110th day of life, mesenchymal stem cell treatment (1x106 cells trans duodenal and 2x106 cells intravenous) was administered. Although fluid and electrolyte requirements did not decrease after stem cell therapy, the rate of blood stream infections was reduced. Small bowel transplantation using cadaveric intestine was performed at the age of 20 months. Unfortunately, the infant died of sepsis one month after transplantation. In this case report, results of stem cell therapy in a newborn infant with MVID were presented and discussed with the relevant literature.

Keywords:

Newborn, microvillus inclusion disease, mesenchymal stem cell, treament,

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1. Muller T, Hess MW, Schiefermeier N, et al. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nature Genet. 2008;40:1163-65.
2. Diarrhea 2, With Microvillus Atrophy; Diar2. https://omim.org/entry/251850
3. Halac U, Lacaille F, Joly F, et al. Microvillous Inclusion Disease: How to improve the prognosis of a severe congenital enterocyte disorder. JPGN. 2011;52:460–5.
4. Webb TL, Webb C. Stem cell therapy in cats with chronic enteropathy: a proof-of-concept study. Journal of Feline Medicine and Surgery. 2015;17:901–8.
5. Hong SN, Dunn JCY, Stelzner M, et al. Concise review: The potential use of intestinal stem cells to treat patients with intestinal failure. Stem Cells Translational Medicine. 2016;5:1–11.
6. Jayawardena D, Alrefai WA, Dudeja PK, et al. Recent advances in understanding and managing malabsorption: focus on microvillus inclusion disease [version 1; peer review: 4 approved]. F1000Research. 2019; 8(F1000 Faculty Rev): 2061.
7. Chang YS, Ahn SY, Sung S, et al. Stem Cell Therapy for Neonatal Disorders: Prospects and Challenges. Yonsei Med J. 2017;58:266-71.
8. Badawy A, Elfadul M, Aziabi M, et al. Challenges of microvillus inclusion disease in the NICU. NeoReviews. 2020;21;e600-4.