Fallo hepático neonatal como forma de presentación de colestasis intrahepática familiar progresiva

Iranzo, Amador; Sanz, Martín Iriondo; García, L. Álvarez; Vega, Paloma Jara; Carpi, Javier Martín de

doi:10.1016/j.anpedi.2009.08.005

Cited by 3 publications

(2 citation statements)

References 10 publications

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“…One child with PFIC2 presenting with liver failure in neonatal period has also been reported. 60 Two studies have compared the clinical presentation and disease progression of approximately 200 genetically proven type 1 and 2 PFIC children. 61,62 Overall, type 2 PFIC patients have more severe hepatobiliary disease with greater impairment of bile salt handling whereas type 1 patients have extrahepatic disease.…”

Section: Etiopathophysiologymentioning

confidence: 99%

Progressive Familial Intrahepatic Cholestasis

Srivastava

2014

Journal of Clinical and Experimental Hepatology

221

216

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Progressive familial intrahepatic cholestasis (PFIC) is a group of rare disorders which are caused by defect in bile secretion and present with intrahepatic cholestasis, usually in infancy and childhood. These are autosomal recessive in inheritance. The estimated incidence is about 1 per 50,000 to 1 per 100,000 births, although exact prevalence is not known. These diseases affect both the genders equally and have been reported from all geographical areas. Based on clinical presentation, laboratory findings, liver histology and genetic defect, these are broadly divided into three types-PFIC type 1, PFIC type 2 and PFIC type 3. The defect is in ATP8B1 gene encoding the FIC1 protein, ABCB 11 gene encoding BSEP protein and ABCB4 gene encoding MDR3 protein in PFIC1, 2 and 3 respectively. The basic defect is impaired bile salt secretion in PFIC1/2 whereas in PFIC3, it is reduced biliary phospholipid secretion. The main clinical presentation is in the form of cholestatic jaundice and pruritus. Serum gamma glutamyl transpeptidase (GGT) is normal in patients with PFIC1/2 while it is raised in patients with PFIC3. Treatment includes nutritional support (adequate calories, supplementation of fat soluble vitamins and medium chain triglycerides) and use of medications to relieve pruritus as initial therapy followed by biliary diversion procedures in selected patients. Ultimately liver transplantation is needed in most patients as they develop progressive liver fibrosis, cirrhosis and end stage liver disease. Due to the high risk of developing liver tumors in PFIC2 patients, monitoring is recommended from infancy. Mutation targeted pharmacotherapy, gene therapy and hepatocyte transplantation are being explored as future therapeutic options.

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Section: Etiopathophysiologymentioning

confidence: 99%

Progressive Familial Intrahepatic Cholestasis

Srivastava

2014

Journal of Clinical and Experimental Hepatology

221

216

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“…[ 1 , 2 ] The disease is often confused with physiological jaundice and other causes of pathological jaundice in the newborn, and is difficult to distinguish as it usually occurs in the neonatal period to the first years of age. [ 3 ] A small percentage of PFIC patients die during childhood or adolescence, from sudden liver failure. [ 4 ] Clinically, intrahepatic cholestasis is the main manifestation of this disease, which is classified into low gamma glutamyl transferase type (low gamma glutamyl transferase [GGT] type) and high GGT type, based on different glutamyl transpeptidase activity.…”

Section: Introductionmentioning

confidence: 99%

Liver transplantation for decompensated liver cirrhosis caused by progressive familial intrahepatic cholestasis type 3

Ding¹,

Wang

et al. 2017

Medicine

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Rationale:Progressive familial intrahepatic cholestasis (PFIC) type 3, characterized by high gamma glutamyl transferase (GGT), is an autosomal recessive genetic disease. It often occurs in patients’ first years of age. However, high GGT type PFIC is still rare.Patient concerns:The present study reports a case of liver transplantation for decompensated liver cirrhosis caused by PFIC type 3. An 18-year-old male presented with a history of abdominal distension and jaundice for 2 months. He had abdominal tenderness but no rebounding pain. Moreover, his dullness was felt over the liver and the spleen was palpable 8 cm below the ribs.Diagnoses:Computed tomography and magnetic resonance cholangiopancreato graphy of the upper abdomen revealed cirrhosis, portal hypertension, collateral circulation formation, large spleen, and ascites. Blood biochemistry showed high alanine transaminase, aspartate transaminase, and GGT. The diagnosis of decompensated liver cirrhosis caused by PFIC-3 was finally confirmed by plasma gene detecting.Interventions:The patient received an open surgery named allogeneic liver transplantation after successful matching of immune types between the recipient and donor. Peritoneal puncture and catheter drainage under B-ultrasound was performed when an encapsulated effusion between the liver and stomach arose.Outcomes:The patient was discharged without specific discomfort and was almost free of fluid accumulation 51 days after the surgery. At the 6-month follow-up, he had no discomfort and the blood routine, liver functions showed no abnormalities.Lessons:We found a new mutant fragment of ABCB4 gene in the process of diagnosis. Liver transplantation remains the most definitive treatment for PFIC. Current medical therapies and surgical interventions such as biliary diversion have potentially created a synergistic outcome.

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Biliary atresia combined with progressive familial intrahepatic cholestasis type 3

Zhang

Huang²,

Dong³

2019

Medicine

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Rationale: Neonatal cholestasis is one of the most serious diseases in infancy. Progressive familial intrahepatic cholestasis (PFIC) is a disease that leads to intrahepatic cholestasis. It is one of the common causes of neonatal cholestasis in addition to biliary atresia (BA). The differential diagnosis of neonatal cholestasis is clinically challenging for pediatricians. Patient concerns: A 4-month-old female presented with severe jaundice, pruritus, and pale stool for 20 days. Abnormally strong echoes near the portal area, an abnormally small gallbladder with an irregularly stiff wall, and splenomegaly were identified on abdominal ultrasound. Blood tests showed elevated alanine aminotransferase, total bilirubin, conjugated bilirubin, gamma-glutamyltranspeptidase, and total bile acid levels. Diagnosis: Intraoperative cholangiography showed BA. ABCB4 gene mutation IVS13+6G>A/G was confirmed by genetic testing. The patient was diagnosed with BA combined with PFIC3. Interventions: Kasai portoenterostomy and ursodeoxycholic acid were used for treatment. Outcomes: Her clinical symptoms and blood tests improved gradually. No recurrence was noted during 1 year of follow-up. Lessons: Additional examinations, such as genetic testing, should be considered in patients with BA who had refractory jaundice after Kasai portoenterostomy in order to exclude intrahepatic cholestasis.

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Fallo hepático neonatal como forma de presentación de colestasis intrahepática familiar progresiva

Cited by 3 publications

References 10 publications

Progressive Familial Intrahepatic Cholestasis

Progressive Familial Intrahepatic Cholestasis

Liver transplantation for decompensated liver cirrhosis caused by progressive familial intrahepatic cholestasis type 3

Biliary atresia combined with progressive familial intrahepatic cholestasis type 3

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