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Novel homozygous nonsense mutation in glucagon-like peptide-2 receptor gene resulting in severe human illness. 胰高血糖素样肽-2受体基因的新型纯合无义突变导致严重的人类疾病。
JPGN reports Pub Date : 2024-09-05 eCollection Date: 2024-11-01 DOI: 10.1002/jpr3.12125
Claire Jaramishian, Shivani Kamal, Martín G Martín, Nathan Zev Minkoff
{"title":"Novel homozygous nonsense mutation in glucagon-like peptide-2 receptor gene resulting in severe human illness.","authors":"Claire Jaramishian, Shivani Kamal, Martín G Martín, Nathan Zev Minkoff","doi":"10.1002/jpr3.12125","DOIUrl":"10.1002/jpr3.12125","url":null,"abstract":"<p><p>Glucagon-like peptide-2 (GLP2) acts on the GLP2 receptor (GLP2R) and plays a role in intestinal growth and adaptation. The endogenous actions of GLP2R do not have an established association with human disease, although mouse-knockout models in a stressed state show enhanced susceptibility to small bowel injury, increased morbidity, mortality, and abnormal host-bacterial interactions. We report an 11-month-old female with multiple intensive care unit admissions for severe metabolic acidosis due to profuse nonbloody diarrhea in the context of various infections. She had normal growth, lab testing, and stooling patterns between illnesses. Trio-whole genome sequencing revealed homozygous nonsense variants resulting in nonfunctional GLP2R. This is the first known human documented with a GLP2R-deficient phenotype, resulting in clinical illness, which correlates with the findings in the GLP2R mouse knockout model and furthers our understanding of GLP2R and the action of teduglutide, a GLP2 analog used for the treatment of short bowel syndrome.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"5 4","pages":"488-490"},"PeriodicalIF":0.0,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11600376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Long lasting effect of intramuscular iodine injection in the treatment of goiter in an intestinal failure patient with complete entero-colectomy. 肌注碘治疗完全性肠结肠切除术后肠衰竭患者甲状腺肿的长期疗效观察。
JPGN reports Pub Date : 2024-09-05 eCollection Date: 2024-11-01 DOI: 10.1002/jpr3.12117
Sirine Belaid, Vikram Raghu, Feras Alissa, Jeffrey Rudolph
{"title":"Long lasting effect of intramuscular iodine injection in the treatment of goiter in an intestinal failure patient with complete entero-colectomy.","authors":"Sirine Belaid, Vikram Raghu, Feras Alissa, Jeffrey Rudolph","doi":"10.1002/jpr3.12117","DOIUrl":"10.1002/jpr3.12117","url":null,"abstract":"<p><p>Individuals with intestinal failure are at risk of micronutrient deficiencies, including iodine, an essential trace element critical for thyroid hormone production. In patients entirely dependent on parenteral nutrition, options for replenishing and maintaining iodine levels are severely restricted as oral forms have limited absorption, and intravenous alternatives are unavailable. Ethiodized oil (Lipiodol-TM) is an iodinated contrast agent with an unusually long half-life that can be given orally or injected into a target organ. We report the successful use of intramuscular injection of ethiodized oil in treating goiter in a patient with total entero-colectomy and in sustaining long lasting thyroid function for over 5 years.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"5 4","pages":"561-563"},"PeriodicalIF":0.0,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11600374/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Methotrexate induced hepatotoxicity in metabolic dysfunction-associated steatotic liver disease. 甲氨蝶呤诱导代谢功能障碍相关脂肪变性肝病的肝毒性
JPGN reports Pub Date : 2024-09-05 eCollection Date: 2024-11-01 DOI: 10.1002/jpr3.12127
Andrea Berkemeyer, Ellen Wagner, Shireen Hashmat, Ruba K Azzam
{"title":"Methotrexate induced hepatotoxicity in metabolic dysfunction-associated steatotic liver disease.","authors":"Andrea Berkemeyer, Ellen Wagner, Shireen Hashmat, Ruba K Azzam","doi":"10.1002/jpr3.12127","DOIUrl":"10.1002/jpr3.12127","url":null,"abstract":"<p><p>Hepatotoxicity is an under-recognized and potentially fatal side effect of high-dose methotrexate (HDMTX) chemotherapy, and this risk is compounded in children with metabolic dysfunction-associated steatotic liver disease and/or metabolic-associated steatohepatitis. We present the case of a 12-year-old obese, Hispanic male with elevated hepatic transaminases of unknown etiology at initiation of high-risk B-cell acute lymphoblastic leukemia chemotherapy. He developed acute kidney injury within 24 hours of receiving intravenous HDMTX which progressed to acute hepatic failure. Liver biopsy confirmed methotrexate toxicity aggravated by undiagnosed metabolic dysfunction-associated steatotic liver disease. Rapid deterioration precluded liver transplantation, and he died 21 days after HDMTX treatment. This case highlights the need for comprehensive hepatic evaluation in patients with known or suspected liver disease when administering HDMTX. Dialysis should be considered if delayed methotrexate clearance occurs due to potential for rapid, irreversible hepatotoxicity.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"5 4","pages":"548-551"},"PeriodicalIF":0.0,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11600378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Upadacitinib as salvage therapy in adolescents with acute severe ulcerative colitis refractory to conventional treatments. Upadacitinib作为传统治疗难治性急性严重溃疡性结肠炎青少年的补救性治疗。
JPGN reports Pub Date : 2024-09-05 eCollection Date: 2024-11-01 DOI: 10.1002/jpr3.12124
Andrew Dickerson, Jeannie S Huang, Laura E Bauman
{"title":"Upadacitinib as salvage therapy in adolescents with acute severe ulcerative colitis refractory to conventional treatments.","authors":"Andrew Dickerson, Jeannie S Huang, Laura E Bauman","doi":"10.1002/jpr3.12124","DOIUrl":"10.1002/jpr3.12124","url":null,"abstract":"<p><strong>Objectives: </strong>Upadacitinib (UPA), a selective Janus kinase-1 inhibitor, has demonstrated efficacy in inducing and maintaining remission in moderate to severe ulcerative colitis (UC) in adults. Current standard management for acute severe ulcerative colitis (ASUC) involves intravenous corticosteroids (IVCS) followed by infliximab (IFX) salvage therapy. Limited data exist on the utility of UPA in ASUC, particularly in adolescents. This case series reports the use of UPA as salvage therapy in hospitalized adolescents experiencing ASUC refractory to IFX.</p><p><strong>Methods: </strong>We performed a retrospective chart review of hospitalized patients with ASUC who received UPA as salvage therapy after initiation of IVCS and failure of IFX.</p><p><strong>Results: </strong>Three adolescents were hospitalized with ASUC for which IFX infusion treatments were unsuccessful. Initiation of UPA enabled patients to improve their Pediatric Ulcerative Colitis Activity Index scores to ≤35 and be discharged home. Hospitalization course, complications, and follow-up information are provided.</p><p><strong>Conclusion: </strong>UPA is a promising short-term salvage therapy in adolescent ASUC cases resistant to conventional treatments. Prospective studies are warranted to elucidate its long-term efficacy and safety in this specific population. These findings provide a novel therapeutic avenue for managing ASUC in adolescents, offering hope for those encountering treatment challenges.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"5 4","pages":"447-453"},"PeriodicalIF":0.0,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11600364/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel genetic variant associated with progressive familial intrahepatic cholestasis type 3: A case series. 一种新的遗传变异与进行性家族性肝内胆汁淤积3型相关：一个病例系列。
JPGN reports Pub Date : 2024-09-03 eCollection Date: 2024-11-01 DOI: 10.1002/jpr3.12119
Brooke P Quertermous, Hayley J Hawkins, Alyssa A Schlotman, Huiying Wang, Sarah Kemme, Anita Pai, Settapong Jitwongwai, Napat Angkathunyakul, Ananya Pongpaibul, Saeed Mohammad
{"title":"A novel genetic variant associated with progressive familial intrahepatic cholestasis type 3: A case series.","authors":"Brooke P Quertermous, Hayley J Hawkins, Alyssa A Schlotman, Huiying Wang, Sarah Kemme, Anita Pai, Settapong Jitwongwai, Napat Angkathunyakul, Ananya Pongpaibul, Saeed Mohammad","doi":"10.1002/jpr3.12119","DOIUrl":"10.1002/jpr3.12119","url":null,"abstract":"<p><p>Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a rare disorder characterized by chronic cholestasis usually progressing to end-stage liver disease (ESLD) within the first two decades of life. PFIC-3 is caused by pathogenic genetic variants of the ATP-binding cassette 4 (ABCB4) gene with variable inheritance; the most common is autosomal recessive. We present two cases of PFIC-3 with genetic testing confirming a novel genetic variant in ABCB4 with homozygous genotype c.779 T > C, p.L260P. Both individuals are from mainland Southeast Asia and have a clinical picture consistent with cholestasis progressing to ESLD.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"5 4","pages":"538-541"},"PeriodicalIF":0.0,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11600367/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cholecystitis due to gallbladder volvulus in a child. 儿童胆囊扭转所致胆囊炎。
JPGN reports Pub Date : 2024-08-30 eCollection Date: 2024-11-01 DOI: 10.1002/jpr3.12120
Christopher Prien, Olga Ostrovetsky, Graciela Wetzler, Kyle Glithero, Daniel Hechtman, Lynn Model
{"title":"Cholecystitis due to gallbladder volvulus in a child.","authors":"Christopher Prien, Olga Ostrovetsky, Graciela Wetzler, Kyle Glithero, Daniel Hechtman, Lynn Model","doi":"10.1002/jpr3.12120","DOIUrl":"10.1002/jpr3.12120","url":null,"abstract":"<p><p>Gallbladder volvulus (GV) involves the rotation of the gallbladder along its axis, resulting in torsion. This pathology is rare, more commonly found in elderly females, but can occasionally occur in pediatric patients. Diagnosis is challenging due to often atypical symptoms, with imaging and laboratory findings typically nonspecific. Prompt surgical intervention is necessary when GV is suspected to prevent significant systemic illness. Laparoscopic cholecystectomy has proven to be safe and effective in pediatric cases. In this report, we present a pediatric case of GV, initially misdiagnosed as viral-induced acalculous cholecystitis, which was effectively managed using laparoscopic cholecystectomy.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"5 4","pages":"528-532"},"PeriodicalIF":0.0,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11600372/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Central retinal vein occlusion after infliximab therapy in a young patient with ulcerative colitis. 英夫利昔单抗治疗后视网膜中央静脉闭塞的年轻患者溃疡性结肠炎。
JPGN reports Pub Date : 2024-08-26 eCollection Date: 2024-11-01 DOI: 10.1002/jpr3.12122
Joana Victor Lage, Joana Filipe Ribeiro, Margarida Vicente-Ferreira, Joana Rodrigues Araújo, Isabel Pais, Céu Espinheira, Eunice Trindade
{"title":"Central retinal vein occlusion after infliximab therapy in a young patient with ulcerative colitis.","authors":"Joana Victor Lage, Joana Filipe Ribeiro, Margarida Vicente-Ferreira, Joana Rodrigues Araújo, Isabel Pais, Céu Espinheira, Eunice Trindade","doi":"10.1002/jpr3.12122","DOIUrl":"10.1002/jpr3.12122","url":null,"abstract":"<p><p>Inflammatory bowel disease (IBD) is a chronic condition, characterized by recurrent inflammation of the gastrointestinal tract. While the primary focus of IBD management consists in controlling gastrointestinal symptoms, IBD also presents an increased risk of thromboembolic complications. Tumor necrosis factor alpha (TNF-α) inhibitors, namely infliximab, have become increasingly common in the management of multiple chronic inflammatory diseases such as IBD. However, recent studies have shown an association between treatment with infliximab and an increased thrombotic risk. We report an unusual case of retinal vein thrombosis in a patient with ulcerative colitis (UC) that occurred during infliximab infusion. This case highlights the need to remain vigilant when administering infliximab to individuals with IBD, particularly those with additional risk factors for thrombosis.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"5 4","pages":"523-524"},"PeriodicalIF":0.0,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11600375/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Takayasu arteritis in an adolescent with untreated Crohn's disease: A case report. 青少年克罗恩病伴高须动脉炎1例。
JPGN reports Pub Date : 2024-08-26 eCollection Date: 2024-11-01 DOI: 10.1002/jpr3.12121
Viven Solomon, Jessica Fennell, Lindsay M Griffin, Bella Zeisler
{"title":"Takayasu arteritis in an adolescent with untreated Crohn's disease: A case report.","authors":"Viven Solomon, Jessica Fennell, Lindsay M Griffin, Bella Zeisler","doi":"10.1002/jpr3.12121","DOIUrl":"10.1002/jpr3.12121","url":null,"abstract":"<p><p>Extraintestinal manifestations in inflammatory bowel disease (IBD) most frequently involve the joints, skin, and organs such as the liver and pancreas. Inflammation of the aorta is less commonly described in pediatrics, although it has been described in adults. We report a case of an adolescent female with Crohn's disease who presented with worsening diarrhea, vomiting, and weight loss, found to have aortitis on imaging. We review the pathogenesis and clinical features of Takayasu arteritis, as well as some of its similarities to IBD to raise awareness, as early detection of this less-known extraintestinal manifestation has been associated with better outcomes.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"5 4","pages":"519-522"},"PeriodicalIF":0.0,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11600361/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Endoscopic cystostomy and biliary sphincterotomy for choledochoceles: A pediatric case series. 内镜下胆囊造瘘和胆道括约肌切开术治疗胆总管结石：一个儿科病例系列。
JPGN reports Pub Date : 2024-08-12 eCollection Date: 2024-11-01 DOI: 10.1002/jpr3.12118
Michelle Saad, Maisam Abu-El-Haija, Tom K Lin, Alexander J Towbin, Andrew T Trout, Anas Bernieh, Greg Tiao, David S Vitale
{"title":"Endoscopic cystostomy and biliary sphincterotomy for choledochoceles: A pediatric case series.","authors":"Michelle Saad, Maisam Abu-El-Haija, Tom K Lin, Alexander J Towbin, Andrew T Trout, Anas Bernieh, Greg Tiao, David S Vitale","doi":"10.1002/jpr3.12118","DOIUrl":"10.1002/jpr3.12118","url":null,"abstract":"<p><p>Management of choledochoceles (type III choledochal cysts) in children varies. We highlight the potential role of endoscopic management of choledochoceles with cystostomy and biliary sphincterotomy through a series of three successfully treated pediatric patients aged 12-13 at our tertiary center. Patients presented with symptoms including abdominal pain and pancreatitis. Choledochoceles were identified by preprocedure imaging on magnetic resonance imaging, with sizes ranging between 7 and 15 mm in maximal diameter. Histology revealed two choledochoceles lined by biliary epithelium and one by intestinal epithelium. Clinical improvement was sustained at a 2-year follow-up, with radiographic resolution on repeat imaging and normal tumor markers. We conclude that endoscopic management of choledochoceles with cystostomy and biliary sphincterotomy is a therapeutic option in children and can lead to sustained resolution of associated symptoms. While there is some lifetime risk of malignancy with choledochal cysts, malignancy in choledochoceles is rare.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"5 4","pages":"475-479"},"PeriodicalIF":0.0,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11600366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis. ZFYVE19基因突变：进行性家族性肝内胆汁淤积症的新变体。
JPGN reports Pub Date : 2024-08-06 eCollection Date: 2024-11-01 DOI: 10.1002/jpr3.12111
Dalal Ben Sabbahia, Meriem Atrasssi, Nissrine Bennani, Abdelhakim Benmoussa, Abdelhak Abkari
{"title":"ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis.","authors":"Dalal Ben Sabbahia, Meriem Atrasssi, Nissrine Bennani, Abdelhakim Benmoussa, Abdelhak Abkari","doi":"10.1002/jpr3.12111","DOIUrl":"10.1002/jpr3.12111","url":null,"abstract":"<p><p>A recent nonsyndromic phenotype, newly linked to mutations in the ZFYVE19 gene, is characterized by the appearance of cholestasis accompanied by an increase in serum gamma-glutamyltranspeptidase (GGT) from infancy or early childhood. Affected individuals generally present with hepatosplenomegaly and may develop portal hypertension. The disease is thought to be the result of cholangiocyte-specific ciliary dysfunction, indicating a ciliopathy that appears to be limited to the liver. Here, we describe the case of an infant born to first-degree consanguineous parents, in whom neonatal cholestasis accompanied by elevated GGT led to the discovery of a ZFYVE19 deficiency. The diagnosis was established following an in-depth analysis of the complete exome sequencing.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"5 4","pages":"552-556"},"PeriodicalIF":0.0,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11600356/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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