A very rare cause of protein losing enteropathy: Gaucher disease
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 lymphadenopathi...
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Hacettepe University Institute of Child Health
2021-08-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/351 |
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| author | Mehmet Akif Göktaş Ersin Gümüş Hülya Demir Hayriye Hızarcıoğlu Gülşen İnci Nur Saltık-Temizel Hasan Özen Şafak Güçer Aysel Yüce |
| author_facet | Mehmet Akif Göktaş Ersin Gümüş Hülya Demir Hayriye Hızarcıoğlu Gülşen İnci Nur Saltık-Temizel Hasan Özen Şafak Güçer Aysel Yüce |
| author_sort | Mehmet Akif Göktaş |
| collection | DOAJ |
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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.
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| format | Article |
| id | doaj-art-9a4f3a0d89e64adcb434daa1507ef5ea |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2021-08-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-9a4f3a0d89e64adcb434daa1507ef5ea2025-08-20T02:01:46ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212021-08-0163410.24953/turkjped.2021.04.020A very rare cause of protein losing enteropathy: Gaucher diseaseMehmet Akif Göktaş0Ersin Gümüş1Hülya Demir2Hayriye Hızarcıoğlu Gülşen3İnci Nur Saltık-Temizel4Hasan Özen5Şafak Güçer6Aysel Yüce7Division of Pediatric Gastroenterology, Hepatology and Nutrition, Hacettepe University Faculty of Medicine, Ankara, Turkey.Division of Pediatric Gastroenterology, Hepatology and Nutrition, Hacettepe University Faculty of Medicine, Ankara, Turkey.Division of Pediatric Gastroenterology, Hepatology and Nutrition, Hacettepe University Faculty of Medicine, Ankara, Turkey.Division of Pediatric Gastroenterology, Hepatology and Nutrition, Hacettepe University Faculty of Medicine, Ankara, Turkey.Division of Pediatric Gastroenterology, Hepatology and Nutrition, Hacettepe University Faculty of Medicine, Ankara, Turkey.Division of Pediatric Gastroenterology, Hepatology and Nutrition, Hacettepe University Faculty of Medicine, Ankara, Turkey.Division of Pediatric Pathology Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.Division of Pediatric Gastroenterology, Hepatology and Nutrition, Hacettepe University Faculty of Medicine, Ankara, Turkey. 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. https://turkjpediatr.org/article/view/351enzyme replacement therapy; lymphadenopathy; lysosomal storage disorder; Gaucher disease |
| spellingShingle | Mehmet Akif Göktaş Ersin Gümüş Hülya Demir Hayriye Hızarcıoğlu Gülşen İnci Nur Saltık-Temizel Hasan Özen Şafak Güçer Aysel Yüce A very rare cause of protein losing enteropathy: Gaucher disease The Turkish Journal of Pediatrics enzyme replacement therapy; lymphadenopathy; lysosomal storage disorder; Gaucher disease |
| title | A very rare cause of protein losing enteropathy: Gaucher disease |
| title_full | A very rare cause of protein losing enteropathy: Gaucher disease |
| title_fullStr | A very rare cause of protein losing enteropathy: Gaucher disease |
| title_full_unstemmed | A very rare cause of protein losing enteropathy: Gaucher disease |
| title_short | A very rare cause of protein losing enteropathy: Gaucher disease |
| title_sort | very rare cause of protein losing enteropathy gaucher disease |
| topic | enzyme replacement therapy; lymphadenopathy; lysosomal storage disorder; Gaucher disease |
| url | https://turkjpediatr.org/article/view/351 |
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