TY  - JOUR
TI  - A very rare cause of protein losing enteropathy: Gaucher
disease
AB  - Background. Mesenteric lymphadenopathy is a rare manifestation of Gaucher disease (GD) in children and can
be accompanied by protein losing enteropathy (PLE). PLE is a difficult-to-treat complication of GD. To date,
only a few pediatric GD cases with PLE and massive mesenteric lymphadenopathies have been reported.
Case. Here, we report a girl with chronic neuronopathic GD, whose disease course was complicated by massive
mesenteric lymphadenopathies with resultant protein losing enteropathy despite a regular and appropriate
enzyme replacement therapy of 60 IU/kg/biweekly until the development of mesenteric lymphadenopathies
and 120 IU/kg/biweekly thereafter.
Conclusions. PLE is a devastating and life threatening complication of GD developing despite long term use
of high dose ERT. Clinicians should be alert for this complication particularly in GD patients presenting with
progressive abdominal distension, edema, ascites and diarrhea or in patients who have already developed
mesenteric lymphadenopathies. Timely diagnosis may allow early intervention with previously suggested
surgical or medical treatment options. Although there is no specific and effective treatment, surgical and
aggressive medical interventions in addition to ERT were reported to relieve diarrhea and halt progression of
mesenteric lymphadenopathies.
AU  - ÖZEN, Hasan
AU  - GÜLŞEN, Hayriye HIZIRCIOĞLU
AU  - saltik temizel, inci nur
AU  - GÜÇER, Şafak
AU  - Yüce, Aysel
AU  - DEMİR, Hülya
AU  - GÜMÜŞ, Ersin
AU  - GÖKTAŞ, Mehmet Akif
DO  - 10.24953/turkjped.2021.04.020
PY  - 2021
JO  - Turkish Journal of Pediatrics
VL  - 63
IS  - 4
SN  - 0041-4301
SP  - 708
EP  - 715
DB  - TRDizin
UR  - http://search/yayin/detay/509978
ER  -