A very rare cause of protein losing enteropathy: Gaucher disease

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.PMID:34449155 | DOI:10.24953/turkjped.2021.04.020

Source: The Turkish Journal of Pediatrics - August 27, 2021 Category: Pediatrics Authors: Mehmet Akif G öktaş Ersin G ümüş H ülya Demir Hayriye H ızarcıoğlu Gülşen İnci Nur Saltık-Temizel Hasan Özen Şafak Güçer Aysel Y üce Source Type: research