A Novel Homozygote EpCAM Gene Mutation in Turkish Neonate with Tufting Enteropathy

Öz

Congenital tufting enteropathy is characterized by intractable watery diarrhea, weight loss, malnutrition and growth retardation in newborn. It is a rare autosomal recessive disorder which is caused by mutations in the gene encoding human epithelial cell adhesion molecule (EpCAM). The diagnosis is based on a combination of clinical signs, histological findings and genetic tests that identify a mutation in the EPCAM gene. We report a Turkish neonate with congenital tufting enteropathy presenting to the emergency department with severe watery diarrhea and weight loss. He was diagnosed as having congenital tufting enteropathy based on his clinical signs and genetic analysis. He was fed by total parenteral nutrition and carbohydrate-poor formula. Despite fact that it is often difficult to find the etiology of conditions that cause congenital diarrhea, clinical suspicion and genetic analysis might be helpful in making the diagnosis of congenital tufting enteropathy.

Anahtar Kelimeler

• congenital diarrhea
• tufting enteropathy
• epithelial cell adhesion molecule
• infant

Tufting Enteropatili Türk Yenidoğan'da Yeni Bir Homozigot EpCAM Gen Mutasyonu

Öz

Konjenital tufting enteropati (KTE), yenidoğan döneminde dirençli sulu ishal, kilo kaybı, yetersiz beslenme ve büyüme geriliği ile karakterizedir. KTE, insan epitel hücre adezyon molekülünü (EpCAM) kodlayan gendeki mutasyonların neden olduğu nadir görülen otozomal resesif bir hastalıktır. Tanı klinik bulgular, histolojik bulgular ve EPCAM genindeki mutasyonu tanımlayan genetik testlerin birlikteliği ile koyulur. Acil servise şiddetli sulu ishal ve kilo kaybı şikayetleri ile başvuran ve konjenital tufting enteropati tanısı koyulan bir Türk yenidoğan olgusu sunulmuştur. Hastaya, klinik bulgularına ve genetik analiz sonucuna dayanılarak konjenital tufting enteropati tanısı koyuldu. Total parenteral beslenme ve karbonhidrattan fakir mama ile beslendi. Konjenital ishalin etiyolojisini saptamak genellikle zor olsa da, klinik şüphe ve genetik analiz, konjenital tufting enteropatinin teşhisinde faydalı olabilir.

Anahtar Kelimeler

• konjenital diyare
• tufting enteropati
• epitel hücre adezyon molekülü
• infant

Kaynakça

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