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 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 Ursodeoxycholic acid for treatment of cholestasis in patients with hepatic amyloidosis

2009 ◽  
Vol 66 (6) ◽  
pp. 482-486 ◽  
Author(s):  
Dominik Faust ◽  
Bora Akoglu ◽  
Gordana Ristic ◽  
Vladan Milovic
Keyword(s):  
Alkaline Phosphatase ◽  
Ursodeoxycholic Acid ◽  
Intrahepatic Cholestasis ◽  
Serum Alkaline Phosphatase ◽  
Specific Binding ◽  
Polarized Light ◽  
Renal Amyloidosis ◽  
Cholestatic Liver Disease ◽  
Hepatic Amyloidosis ◽  
Glutamyl Transferase

Background. Amyloidosis represents a group of different diseases characterized by extracellular accumulation of pathologic fibrillar proteins in various tissues and organs. Severe amyloid deposition in the liver parenchyma has extrahepatic involvement predominantly in the kidney or heart. We evaluated the effect of ursodeoxycholic acid, in four patients with severe hepatic amyloidosis of different etiologies, who presented with increased alkaline phosphatase and ?-glutamyl transferase. Case report. The study included four patients who presented with amyloidosis-associated intrahepatic cholestasis. Three of them had renal amyloidosis which developed 1-3 years before cholestasis occurred, the remaining one having intrahepatic cholestasis as the primary sign of the disease. Amyloidosis was identified from liver biopsies in all patients by its specific binding to Congo red and green birefringence in polarized light. The biochemical nature and the class of amyloid deposits were identified immunohistochemically. In addition to their regular treatment, the patients received 750 mg ursodeoxycholic acid per day. After 2-4 weeks all patients had a significant decrease of serum alkaline phosphatase and ?-glutamyl transferase, and their general status significantly improved. Conclusion. Treatment with ursodeoxycholic acid may be beneficial in patients with hepatic amyloidosis, and do extend indications for the use of ursodeoxycholic acid in amyloidotic cholestatic liver disease.

scholarly journals Odevixibat and partial external biliary diversion showed equal improvement of cholestasis in a patient with progressive familial intrahepatic cholestasis

2020 ◽  
Vol 13 (6) ◽  
pp. e234185
Author(s):  
Christoph Slavetinsky ◽  
Ekkehard Sturm
Keyword(s):  
Bile Acid ◽  
Bile Acids ◽  
Intrahepatic Cholestasis ◽  
Cholestatic Liver Disease ◽  
Serum Bile Acid ◽  
Open Label ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Serum Bile Acids ◽  
Biliary Diversion

Untreated progressive familial intrahepatic cholestasis (PFIC) type 2, or bile salt exporter protein deficiency, frequently leads to severe pruritus, impaired growth and progressive liver fibrosis with risk of organ failure. We describe a 15-month-old male patient with severe pruritus diagnosed with PFIC type 2 enrolled in an open-label phase 2 study who received 4 weeks of treatment with odevixibat, an ileal bile acid transporter inhibitor under development for cholestatic liver disease treatment. The patient experienced reductions in serum bile acids and improvement in itching and sleep scores, and odevixibat was well tolerated. After the odevixibat study, symptoms returned and the patient underwent partial external biliary diversion (PEBD). Odevixibat treatment and PEBD produced similar normalisation of serum bile acid levels and improvements in pruritus and sleep disruptions. Thus, odevixibat appeared to be as effective as invasive PEBD in treating serum bile acids and cholestatic pruritus in this patient.

scholarly journals Effects of exposure to textile dye on serum Alkaline Phosphatase and Gamma Glutamyl Transferase levels in textile industry workers

2020 ◽  
Vol 15 (2) ◽  
pp. 68-71
Author(s):  
Sayeda Tasnim Kamal ◽  
Qazi Shamima Akhter
Keyword(s):  
Alkaline Phosphatase ◽  
Serum Alkaline Phosphatase ◽  
Textile Dyes ◽  
Textile Dye ◽  
Gamma Glutamyl Transferase ◽  
Gamma Glutamyl ◽  
Control Serum ◽  
Exposed Workers ◽  
Glutamyl Transferase ◽  
Apparently Healthy

Background: The textile dyeing industry uses large number of chemicals, acids and dyes. The workers are exposed to these chemicals during their daily work activities. Chronic exposure to these chemicals may have adverse effect on the liver functions, as liver plays an important role in detoxification of these chemicals Objective: To assess serum Alkaline Phosphatase (ALP) and Gamma glutamyl transferase (GGT) levels of the industrials workers exposed to textile dyes. Methods: This cross sectional study was carried out in the Department of Physiology,Dhaka Medical College, Dhaka from July 2016 to June 2017 on 25 apparently healthy male workers aged 20-40 years working in a textile dye factory for 2 years or more. Similar age, sex, BMI & socioeconomically matched 25 apparently healthy non exposed workers were enrolled as control. Serum ALP and GGT levels were estimated by autoanalyzer. For statistical analysis unpaired Student’s t-test were performed Results: Serum ALP and GGT levels were significantly higher in textile dye exposed workers than those of control group (p <0.05). Conclusions:This study reveals that exposure to textile dyes have deteriorating effect on liver function. J Bangladesh Soc Physiol. 2020, December; 15(2): 68-71

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.

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