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Hoppenreijs E.p.a.h. - One of the best experts on this subject based on the ideXlab platform.
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Protein-Losing Enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome
'Springer Science and Business Media LLC', 2016Co-Authors: Peters B., Schuurs-hoeijmakers J.h.m., Fuijkschot J., Reimer A.g., Flier M. Van Der, Lugtenberg D., Hoppenreijs E.p.a.h.Abstract:Contains fulltext : 168079.pdf (publisher's version ) (Open Access)BACKGROUND: Camptodactyly-arthropathy-coxa vara-pericarditis (CACP, OMIM: #208250) syndrome is a rare autosomal recessive disease that can be difficult to recognise not only because of its wide clinical variability but also because of its clinical resemblance to juvenile idiopathic arthritis (JIA). PRG4 is the only gene so far known to be associated with CACP syndrome. Children with CACP syndrome lack the glycoProtein lubricin due to recessive mutations in PRG4. Lubricin serves as a lubricant in joints, tendons and visceral cavities (pleural cavity, pericardium) and inhibits synovial proliferation. Children with CACP syndrome suffer from congenital camptodactyly, arthropathy, coxa vara and sometimes pericarditis. This report concerns a child with CACP syndrome complicated by Protein-Losing Enteropathy (PLE), caused by constrictive pericarditis and so contributes to knowledge of the presentation of CACP syndrome. CASE PRESENTATION: A 10- year-old girl with consanguineous parents suffered from congenital camptodactyly and progressive swollen and painful joints. Her father and his sister had similar childhood-onset joint complaints. Laboratory tests showed no signs of inflammation but showed persistent low Protein- and IgG- levels, indicating a secondary immunodeficiency. Increased alpha antitrypsin clearance confirmed PLE. Abdominal ultrasound with Doppler showed hepatomegaly and portal hypertension. Echocardiography suggested constrictive pericarditis. However, heart catheterization could not confirm this. Ultrasound and X-ray examination of the joints combined with a puncture of the synovial fluid were performed. These results, combined with the clinical presentation and the consanguinity, suggested CACP syndrome. Due to excessive enteral Protein losses, the patient was treated with Cotrimoxazol prophylaxis and immunoglobulin supplements. These supplements were inadequate to achieve normal IgG values. As constrictive pericarditis with subsequent PLE was the best explanation for the excessive IgG losses, pericardiectomy was performed with good results. Genetic testing in our patient was complicated but revealed a pathogenic mutation within the repeat sequence in exon 7 of the PRG4 gene. CONCLUSION: PLE resulting from constrictive pericarditis can be a complication of CACP syndrome. As serious complications can arise from the resulting secondary immunodeficiency, we recommend regular evaluation of clinical symptoms of constrictive pericarditis and PLE in children with CACP syndrome
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Protein-Losing Enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome
2016Co-Authors: Peters B., Schuurs-hoeijmakers J.h.m., Fuijkschot J., Reimer A.g., Flier M. Van Der, Lugtenberg D., Hoppenreijs E.p.a.h.Abstract:BACKGROUND: Camptodactyly-arthropathy-coxa vara-pericarditis (CACP, OMIM: #208250) syndrome is a rare autosomal recessive disease that can be difficult to recognise not only because of its wide clinical variability but also because of its clinical resemblance to juvenile idiopathic arthritis (JIA). PRG4 is the only gene so far known to be associated with CACP syndrome. Children with CACP syndrome lack the glycoProtein lubricin due to recessive mutations in PRG4. Lubricin serves as a lubricant in joints, tendons and visceral cavities (pleural cavity, pericardium) and inhibits synovial proliferation. Children with CACP syndrome suffer from congenital camptodactyly, arthropathy, coxa vara and sometimes pericarditis. This report concerns a child with CACP syndrome complicated by Protein-Losing Enteropathy (PLE), caused by constrictive pericarditis and so contributes to knowledge of the presentation of CACP syndrome. CASE PRESENTATION: A 10- year-old girl with consanguineous parents suffered from congenital camptodactyly and progressive swollen and painful joints. Her father and his sister had similar childhood-onset joint complaints. Laboratory tests showed no signs of inflammation but showed persistent low Protein- and IgG- levels, indicating a secondary immunodeficiency. Increased alpha antitrypsin clearance confirmed PLE. Abdominal ultrasound with Doppler showed hepatomegaly and portal hypertension. Echocardiography suggested constrictive pericarditis. However, heart catheterization could not confirm this. Ultrasound and X-ray examination of the joints combined with a puncture of the synovial fluid were performed. These results, combined with the clinical presentation and the consanguinity, suggested CACP syndrome. Due to excessive enteral Protein losses, the patient was treated with Cotrimoxazol prophylaxis and immunoglobulin supplements. These supplements were inadequate to achieve normal IgG values. As constrictive pericarditis with subsequent PLE was the best explanation for the excessive IgG losses, pericardiectomy was performed with good results. Genetic testing in our patient was complicated but revealed a pathogenic mutation within the repeat sequence in exon 7 of the PRG4 gene. CONCLUSION: PLE resulting from constrictive pericarditis can be a complication of CACP syndrome. As serious complications can arise from the resulting secondary immunodeficiency, we recommend regular evaluation of clinical symptoms of constrictive pericarditis and PLE in children with CACP syndrome
Fayez K Ghishan - One of the best experts on this subject based on the ideXlab platform.
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resolution of Protein Losing Enteropathy after congenital heart disease repair by selective lymphatic embolization
Pediatric Gastroenterology Hepatology & Nutrition, 2019Co-Authors: Ranjit I Kylat, Marlys H Witte, Brent J Barber, Yoav Dori, Fayez K GhishanAbstract:With improving survival of children with complex congenital heart disease (CCHD), postoperative complications, like Protein-Losing Enteropathy (PLE) are increasingly encountered. A 3-year-old girl with surgically corrected CCHD (ventricular inversion/L-transposition of the great arteries, ventricular septal defect, pulmonary atresia, post-double switch procedure [Rastelli and Glenn]) developed chylothoraces. She was treated with pleurodesis, thoracic duct ligation and subsequently developed chylous ascites and PLE (serum albumin ≤0.9 g/dL) and was malnourished, despite nutritional rehabilitation. Lymphangioscintigraphy/single-photon emission computed tomography showed lymphatic obstruction at the cisterna chyli level. A segmental chyle leak and chylous lymphangiectasia were confirmed by gastrointestinal endoscopy, magnetic resonance (MR) enterography, and MR lymphangiography. Selective glue embolization of leaking intestinal lymphatic trunks led to prompt reversal of PLE. Serum albumin level and weight gain markedly improved and have been maintained for over 3 years. Selective interventional embolization reversed this devastating lymphatic complication of surgically corrected CCHD.
Ghishan, Fayez K - One of the best experts on this subject based on the ideXlab platform.
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Resolution of Protein-Losing Enteropathy after Congenital Heart Disease Repair by Selective Lymphatic Embolization
'The Korean Society of Pediatric Gastroenterology Hepatology and Nutrition', 2019Co-Authors: Kylat Ranjit, Witte, Marlys H, Barber, Brent J, Dori Yoav, Ghishan, Fayez KAbstract:With improving survival of children with complex congenital heart disease (CCHD), postoperative complications, like Protein-Losing Enteropathy (PLE) are increasingly encountered. A 3-year-old girl with surgically corrected CCHD (ventricular inversion/L-transposition of the great arteries, ventricular septal defect, pulmonary atresia, post-double switch procedure [Rastelli and Glenn]) developed chylothoraces. She was treated with pleurodesis, thoracic duct ligation and subsequently developed chylous ascites and PLE (serum albumin ≤0.9 g/dL) and was malnourished, despite nutritional rehabilitation. Lymphangioscintigraphy/single-photon emission computed tomography showed lymphatic obstruction at the cisterna chyli level. A segmental chyle leak and chylous lymphangiectasia were confirmed by gastrointestinal endoscopy, magnetic resonance (MR) enterography, and MR lymphangiography. Selective glue embolization of leaking intestinal lymphatic trunks led to prompt reversal of PLE. Serum albumin level and weight gain markedly improved and have been maintained for over 3 years. Selective interventional embolization reversed this devastating lymphatic complication of surgically corrected CCHD.Open access journalThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at repository@u.library.arizona.edu
Safa Baris - One of the best experts on this subject based on the ideXlab platform.
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cd55 deficiency early onset Protein Losing Enteropathy and thrombosis
The New England Journal of Medicine, 2017Co-Authors: Ahmet Ozen, William A Comrie, Rico Chandra Ardy, Cecilia Dominguez Conde, Buket Dalgic, Omer Faruk Beser, Aaron R Morawski, Elif Karakocaydiner, Engin Tutar, Safa BarisAbstract:BackgroundStudies of monogenic gastrointestinal diseases have revealed molecular pathways critical to gut homeostasis and enabled the development of targeted therapies. MethodsWe studied 11 patients with abdominal pain and diarrhea caused by early-onset Protein-Losing Enteropathy with primary intestinal lymphangiectasia, edema due to hypoProteinemia, malabsorption, and less frequently, bowel inflammation, recurrent infections, and angiopathic thromboembolic disease; the disorder followed an autosomal recessive pattern of inheritance. Whole-exome sequencing was performed to identify gene variants. We evaluated the function of CD55 in patients’ cells, which we confirmed by means of exogenous induction of expression of CD55. ResultsWe identified homozygous loss-of-function mutations in the gene encoding CD55 (decay-accelerating factor), which lead to loss of Protein expression. Patients’ T lymphocytes showed increased complement activation causing surface deposition of complement and the generation of solubl...
Varun Sharma - One of the best experts on this subject based on the ideXlab platform.
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Protein Losing Enteropathy and plastic bronchitis after the fontan procedure
The Journal of Thoracic and Cardiovascular Surgery, 2021Co-Authors: Varun Sharma, Ajay J Iyengar, Diana Zannino, Thomas L Gentles, Robert N Justo, David S Celermajer, Andrew Bullock, David S Winlaw, Gavin R WheatonAbstract:Abstract Objectives Protein Losing Enteropathy and plastic bronchitis are severe complications in Fontan circulation, with 5-year survival ranging from 46% to 88%. We report risk factors and outcomes of Protein Losing Enteropathy and plastic bronchitis in patients undergoing the Fontan. Methods We performed a retrospective analysis of 1561 patients from the Australia New Zealand Fontan Registry. Two end points were death and cardiac transplantation examined with Cox regression (if no competing risks) or cumulative incidence curves and cause-specific Cs regression. Results A total of 55 patients with Protein Losing Enteropathy/plastic bronchitis were included. Their median age at the Fontan was 5.7 years, and time to onset after the Fontan for Protein Losing Enteropathy was 5.0 years and plastic bronchitis was 1.7 years. Independent predictors for developing Protein Losing Enteropathy/plastic bronchitis were right-ventricular morphology with hypoplastic left-heart syndrome (hazard ratio, 2.30; confidence interval, 1.12-4.74), older age at Fontan (hazard ratio, 1.13; confidence interval, 1.03-1.23), and pleural effusions after Fontan (hazard ratio, 2.43; confidence interval, 1.09-5.41); left-ventricular morphology was protective (hazard ratio, 0.36; confidence interval, 0.18-0.70). In the Protein Losing Enteropathy/plastic bronchitis population, freedom from death or transplantation after Protein Losing Enteropathy/plastic bronchitis diagnosis at 5, 10, and 15 years was 70% (confidence interval, 58-85), 65% (confidence interval, 51-83), and 43% (confidence interval, 26-73), respectively; only older age (hazard ratio, 1.23; confidence interval, 1.01-1.52) was an independent predictor. Twenty-six surgical interventions were performed in 20 patients, comprising Fontan revisions (n = 5), fenestrations (n = 11), Fontan conversions (n = 5), atrioventricular valve repairs (n = 3), and hepatic vein diversion (n = 2). Conclusions Protein Losing Enteropathy and plastic bronchitis remain severe complications, preferably affecting patients with dominant right single ventricle, with older age at Fontan being a predictor of developing Protein Losing Enteropathy/plastic bronchitis and poorer prognosis. Heart transplantation remains the ultimate treatment, with 30% dying or requiring transplantation within 5 years, and the remaining being stable for long periods.
