Kliničke manifestacije Johanson-Blizzard-ovog sindroma kod bolesnika sa nukleotidnim varijantama UBR1 gena

  • Danijela Jojkić-Pavkov University of Novi Sad, Faculty of Medicine, Novi Sad, Serbia; Institute for Child and Youth Health Care of Vojvodina, Department of Gastroenterology, Hepatology, and Nutrition, Novi Sad, Serbia
  • Jela Tošić University of Novi Sad, Faculty of Medicine, Novi Sad, Serbia; Institute for Child and Youth Health Care of Vojvodina, Department of Gastroenterology, Hepatology, and Nutrition, Novi Sad, Serbia
  • Ivana Kavečan University of Novi Sad, Faculty of Medicine, Novi Sad, Serbia; Institute for Child and Youth Health Care of Vojvodina, Department of Gastroenterology, Hepatology, and Nutrition, Novi Sad, Serbia
  • Milica Plazačić Institute for Child and Youth Health Care of Vojvodina, Department of Gastroenterology, Hepatology, and Nutrition, Novi Sad, Serbia
DOI: https://doi.org/10.2298/VSP220803003J
Ključne reči: pankreas, egzokrini, insuficijencija;, geni;, hipotireoidizam; johanson-blizzardov sindrom;, mutacija;, ubr1 protein, humani

Sažetak


Uvod. Johanson-Blizzard-ov sindrom (JBS) je veoma redak genetički poremećaj uzrokovan mutacijom gena ubiquitin protein ligase E3 component N-recognin 1 (UBR1). Klinička dijagnoza se zasniva na prepoznavanju patognomonične kombinacije kongenitalne egzokrine insuficijencije pankreasa i karakterističnih znakova facijalne dismorfologije (hipoplazija/aplazija nosnih školjki i oligodoncija stalnih zuba). Dijagnoza se potvrđuje genetičkim skriningom UBR1 gena. Cilj rada bio je da se ukaže na to da nukleotidne varijante UBR1 gena, koje se opisuju kao benigne ili neklasifikovane, ipak treba razmotriti kao genetički uzrok kod bolesnika sa kliničkim karakteristikama JBS-a. Prikaz bolesnika. Prikazano je dete uzrasta osam meseci, sa kliničkim karakteristikama JBS-a, koje je primljeno u bolnicu zbog nenapredovanja u telesnoj masi i neformiranih stolica. Na prijemu su bili prisutni znakovi proteinsko-energetske malnutricije, facijalne dismorfologije i druge anomalije. Dete je imalo hipotoniju i konvergentni strabizam. Laboratorijskim ispitivanjem potvrđena je egzokrina insuficijencija pankreasa i hipotireoidizam. Genetičkom analizom potvrđene su dve nukleotidne varijante UBR1 gena – hromozom 15q15.2: NM_174916.3:c.4700+12A>G (intron 42) i NM_174916.3 UBR1:c.862-18C>T (intron 07). Sprovedena je supstituciona terapija pankreasnim enzimom uz suplementaciju liposolubilnim vitaminima i uz adekvatnu ishranu. Zaključak. Prepoznavanje kliničkih karakteristika JBS-a i potvrda sindroma primenom genetičkih analiza, posebno je važna kod bolesnika sa idiopatskom insuficijencijom pankreasa. Čak i kada genetička potvrda nije moguća, za normalan rast i razvoj deteta neophodna je adekvatna terapija.

Biografija autora

Ivana Kavečan, University of Novi Sad, Faculty of Medicine, Novi Sad, Serbia; Institute for Child and Youth Health Care of Vojvodina, Department of Gastroenterology, Hepatology, and Nutrition, Novi Sad, Serbia
 

 

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Objavljeno
2023/11/02
Broj časopisa
Vol. 80 Br. 10 (2023): Vojnosanitetski pregled
Rubrika
Prikaz bolesnika