scholarly journals ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): Phenotypic differences between PFIC1 and PFIC2 and natural history

Hepatology ◽  
2010 ◽  
Vol 51 (5) ◽  
pp. 1645-1655 ◽  
Author(s):  
Anne Davit-Spraul ◽  
Monique Fabre ◽  
Sophie Branchereau ◽  
Christiane Baussan ◽  
Emmanuel Gonzales ◽  
...  
Keyword(s):  
Natural History ◽  
Intrahepatic Cholestasis ◽  
Gamma Glutamyl Transferase ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Phenotypic Differences ◽  
Gamma Glutamyl ◽  
Glutamyl Transferase

scholarly journals Liver Transplantation in Progressive Familial Intrahepatic Cholestasis With Normal Gamma-Glutamyl Transferase: Evaluation of Post-Transplant Steatosis and Steatohepatitis

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Mohammad Hossein Anbardar ◽  
Seyed Mohsen Dehghani ◽  
Maryam Poostkar ◽  
Seyed Ali Malek-Hosseini
Keyword(s):  
Liver Transplantation ◽  
Growth Retardation ◽  
Intrahepatic Cholestasis ◽  
Clinical Manifestations ◽  
Gamma Glutamyl Transferase ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Post Transplant ◽  
End Stage Liver Disease ◽  
Glutamyl Transferase ◽  
End Stage

Background: Progressive familial intrahepatic cholestasis is a disease presenting with severe cholestasis and progressing to the end-stage liver disease later. Liver transplantation is a treatment modality available for progressive familial intrahepatic cholestasis, especially in patients with end-stage liver disease or those who are unsuitable for or have failed biliary diversion. Objectives: To evaluate clinical and pathological characteristics of progressive familial intrahepatic cholestasis patients who had undergone liver transplantation and to determine post-transplant steatosis and steatohepatitis. Methods: We evaluated 111 progressive familial intrahepatic cholestasis patients with normal gamma-glutamyl transferase that performed liver transplantation in Shiraz Transplant Center in Iran between March 2000 and March 2017. Results: The most common clinical manifestations were jaundice and pruritus. Growth retardation and diarrhea were detected in 76.6% and 42.5% of the patients. After transplantation, growth retardation was seen in 31.5% of the patients, and diarrhea in 36.9% of them. Besides, 29.1% of the patients died post-transplant. Post-transplant liver biopsies were taken from 50 patients, and 15 (30%) patients had steatosis or steatohepatitis, five of whom (10%) had macro-vesicular steatosis alone, and 10 (20%) had steatohepatitis. Only one patient showed moderate bridging fibrosis (stage III), and none of them showed severe fibrosis. Conclusions: Liver transplantation is the final treatment option for these patients, and it can relieve most clinical manifestations. However, post-transplant mortality rate was relatively high in our center. Diarrhea, growth retardation, and steatosis are unique post-transplant complications in these patients. The rate of post-transplant steatosis and steatohepatitis in patients with liver biopsy in our study was 30%, with a significant difference from previous studies.

scholarly journals A child with debilitating pruritus

2016 ◽  
Vol 6 (4) ◽  
Author(s):  
Nikhil Sonthalia ◽  
Sami S. Jain ◽  
Vinay B. Pawar ◽  
Vinay G. Zanwar ◽  
Ravindra G. Surude ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Alkaline Phosphatase ◽  
Bile Acid ◽  
Intrahepatic Cholestasis ◽  
Serum Alkaline Phosphatase ◽  
Gamma Glutamyl Transferase ◽  
Type I ◽  
Serum Bile Acid ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Glutamyl Transferase

We describe a case of two-year-old boy presenting with debilitating pruritus, patchy alopecia and jaundice since the age of 6 months. On evaluation he had intrahepatic cholestasis with persistently raised serum alkaline phosphatase, normal Gamma glutamyl transferase and raised serum bile acid levels. His liver biopsy showed bland cholestasis and electron microscopy showed granular bile suggestive of progressive familial intrahepatic cholestasis type I. Medical therapy with ursodeoxycholic acid, cholestyramine, rifampicin with nutritional modification was successful in alleviating the symptoms and correcting the nutritional status. To our knowledge this is only the sixth case of progressive familial intrahepatic cholestasis type I reported from India. Herein we discuss the diagnostic and therapeutic hurdles that one encounters in managing progressive familial intrahepatic cholestasis and also review the literature regarding this rare disorder.

scholarly journals Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis?

2016 ◽  
Vol 48 (2) ◽  
pp. 203-205 ◽  
Author(s):  
Hugo M. Oliveira ◽  
Cláudia Pereira ◽  
Ermelinda Santos Silva ◽  
Jorge Pinto-Basto ◽  
Helena Pessegueiro Miranda
Keyword(s):  
Intrahepatic Cholestasis ◽  
Gamma Glutamyl Transferase ◽  
Gamma Glutamyl ◽  
Glutamyl Transferase

scholarly journals Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report

2021 ◽  
pp. 1-10
Author(s):  
Cristina Molera ◽  
Tinatin Sarishvili ◽  
Andrés Nascimento ◽  
Irakli Rtskhiladze ◽  
Gema Muñoz Bartolo ◽  
...  
Keyword(s):  
Natural History ◽  
Intrahepatic Cholestasis ◽  
Case Series ◽  
Motor Dysfunction ◽  
Significant Feature ◽  
Gamma Glutamyl Transferase ◽  
Myotubular Myopathy ◽  
Biopsy Report ◽  
Life Threatening ◽  
Glutamyl Transferase

X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy characterized by profound skeletal muscle weakness, respiratory distress, and motor dysfunction. However, pathology is not limited to muscle and can be associated with life-threatening hepatic peliosis. Hepatobiliary disease has been reported in up to 17% of XLMTM patients but has not been extensively characterized. We report on five XLMTM patients who experienced intrahepatic cholestasis in their disease natural history, illustrating the need to further investigate these manifestations. These patients shared presentations that included pruritus, hypertransaminemia, and hyperbilirubinemia with normal gamma-glutamyl transferase, following infection or vaccination. Three patients who had genetic testing showed no evidence of genetic mutations associated with familial cholestasis. In one patient, progression to cirrhotic, decompensated liver disease occurred. Further investigations into the molecular pathomechanism underpinning these clinical observations in XLMTM patients will be important for informing patient care.

Progressive familial intrahepatic cholestasis type 4 in an Indian child: presentation, initial course and novel compound heterozygous mutation

2020 ◽  
Vol 13 (7) ◽  
pp. e234193
Author(s):  
Nida Mirza ◽  
Ravi Bharadwaj ◽  
Smita Malhotra ◽  
Anupam Sibal
Keyword(s):  
Smooth Muscle ◽  
Intrahepatic Cholestasis ◽  
Compound Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Cholestatic Liver Disease ◽  
Gamma Glutamyl Transferase ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Smooth Muscle Antibody ◽  
Elevated Liver Enzymes ◽  
Glutamyl Transferase

A 15-year-old boy who had a history of on and off pruritus and jaundice since many years found to have a novel mutation in TJP2 gene. On examination, he had clubbing, splenomegaly, grade 3 oesophageal varices and short stature. Investigation revealed direct hyperbirubinemia with elevated liver enzymes with normal gamma-glutamyl transferase (GGT). Antinuclear antibody (ANA), smooth muscle antibody (SMA) anti-liver kidney microsomal (anti-LKM) and viral markers for hepatitis were negative. However, IgG was elevated and anti-smooth muscle antibody (ASMA) was weekly positive (1:20). He was also given a trial of steroid and azathioprine for 1 year on the basis of liver biopsy findings, raised IgG and positive ASMA but finding no improvement stopped. Genetic testing by next-generation sequencing found a novel compound heterozygous missense variation in exon 17 of the TJP2 gene confirming progressive familial intrahepatic cholestasis type 4 as the aetiology of cholestatic liver disease.

Recovery from LCDD-associated Severe Liver Cholestasis: a Case Report and Literature Review

2016 ◽  
Vol 25 (1) ◽  
pp. 99-103 ◽  
Author(s):  
Benoit Brilland ◽  
Johnny Sayegh ◽  
Anne Croue ◽  
Frank Bridoux ◽  
Jean-François Subra ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Light Chain ◽  
Intrahepatic Cholestasis ◽  
Relevant Literature ◽  
Gamma Glutamyl Transferase ◽  
Light Chain Deposition Disease ◽  
Deposition Disease ◽  
Uncommon Presentation ◽  
Light Chain Deposition ◽  
Glutamyl Transferase

Light chain deposition disease (LCDD) is a rare multisystemic disorder associated with plasma cell proliferation. It mainly affects the kidney, but liver and heart involvement may occur, sometimes mimicking the picture of systemic amyloidosis. Liver disease in LCDD is usually asymptomatic and exceptionally manifests with severe cholestatic hepatitis. We report the case of a 66-year-old female with κ-LCDD and cast nephropathy in the setting of symptomatic multiple myeloma who, after a first cycle of bortezomib-dexamethasone chemotherapy, developed severe and rapidly worsening intrahepatic cholestasis secondary to liver κ-light chain deposition. Intrahepatic cholestasis was attributed to LCDD on the basis of the liver histology and exclusion of possible diagnoses. Chemotherapy was maintained and resulted in progressive resolution of cholestasis. We report here an uncommon presentation of LCDD, with prominent liver involvement that fully recovered with bortezomib-based chemotherapy, and briefly review the relevant literature. Abbreviations: AKI: Acute kidney injury; ALP: alkaline phosphatase; ALT: alanine aminotransferase; AST: aspartate aminotransferase; CMV: Cytomegalovirus; EBV: Epstein–Barr virus; GGT: gamma-glutamyl transferase; HSV: Herpes simplex virus; LC: light chain; LCDD: Light chain deposition disease; MIDD: Monoclonal immunoglobulin deposition disease; MM: Multiple myeloma.

Prognostic value of gamma-glutamyl transferase in patients with diabetes mellitus and coronary artery disease

2016 ◽  
Vol 49 (15) ◽  
pp. 1127-1132 ◽  
Author(s):  
Gjin Ndrepepa ◽  
Roisin Colleran ◽  
Anke Luttert ◽  
Siegmund Braun ◽  
Salvatore Cassese ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Prognostic Value ◽  
Gamma Glutamyl Transferase ◽  
Gamma Glutamyl ◽  
Patients With Diabetes ◽  
Artery Disease ◽  
Glutamyl Transferase

Bước đầu khảo sát sự ổn định của một số chỉ số xét nghiệm sinh hóa trong máu toàn phần và huyết tương theo thời gian bảo quản mẫu bệnh phẩm

2021 ◽  
Vol 16 (3) ◽  
Author(s):  
Đinh Thị Thảo ◽  
Trần Thái Hà ◽  
Nguyễn Viết Tân ◽  
Vi Thị Nhung ◽  
Nguyễn Cẩm Thạch
Keyword(s):  
Aspartate Aminotransferase ◽  
Alanine Aminotransferase ◽  
Ldl Cholesterol ◽  
Hdl Cholesterol ◽  
Gamma Glutamyl Transferase ◽  
Gamma Glutamyl ◽  
Mau Mau ◽  
Glutamyl Transferase

Mục tiêu: Đánh giá ảnh hưởng của thời gian bảo quản đến kết quả phân tích các chỉ số urea, creatinine, triglycerid, cholesterol, HDL-cholesterol, LDL-cholesterol, aspartate aminotransferase (AST), alanine aminotransferase (ALT), gamma glutamyl transferase (GGT), acid uric, bilirubin toàn phần, bilirubin trực tiếp trong mẫu máu toàn phần và huyết tương. Đối tượng và phương pháp: Gồm 162 mẫu máu toàn phần được chống đông bằng Li-heparin của 81 bệnh nhân (mỗi bệnh nhân lấy 2 ống mẫu) đến khám tại Khoa Khám bệnh - Bệnh viện Trung ương Quân đội 108 từ ngày 15/01/2021 đến ngày 15/02/2021. Với mỗi bệnh nhân: Ngay sau khi lấy máu, ống mẫu 1 được ly tâm, phân tích thường quy các chỉ số hóa sinh (phần còn lại sau phân tích gọi là mẫu 1), ống mẫu 2 được tách lấy huyết tương (mẫu 2). Sau đó, cả 2 mẫu được lưu trong tủ lạnh ở nhiệt độ 4oC. Sử dụng các mẫu này để phân tích các chỉ số hóa sinh tại các thời điểm 24, 48, và 72 giờ sau khi lấy máu. Kết quả: Nồng độ AST của các mẫu 1 được lưu trong 24, 48, 72 giờ cao hơn nồng độ AST phân tích thường quy (p<0,05). Nồng độ bilirubin toàn phần, bilirubin trực tiếp của mẫu 1 và mẫu 2 giảm dần theo thời gian lưu mẫu (p<0,05). Kết luận: Nồng độ các chỉ số AST, bilirubin toàn phần, bilirubin trực tiếp của các mẫu lưu (huyết tương và mẫu máu sau phân tích không loại bỏ các thành phần hữu hình) không ổn định theo thời gian bảo quản ở 4oC. Nồng độ các chỉ số urea, creatinine, triglycerid, cholesterol, HDL-cholesterol, LDL-cholesterol, ALT, GGT, acid uric (huyết tương và mẫu máu sau phân tích không loại bỏ các thành phần hữu hình) ổn định đến 72 giờ ở 4oC. Từ khóa: Hóa sinh, bảo quản bệnh phẩm, Bệnh viện Trung ương Quân đội 108.

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