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Cholestasis in infancy

Sajan Agarwal, Bikrant Bihari Lal, Dinesh Rawat, Archana Rastogi, Kishore G S Bharathy, Seema Alam
OBJECTIVE: To study the clinical and laboratory profile of children with progressive familial intrahepatic cholestasis (PFIC) and evaluate their outcome. METHODS: The study is a retrospective review of all cases diagnosed with PFIC between January 2011 and July 2015. All children underwent histopathological examination and immunostaining. Management was done as per institute's protocol. RESULTS: There were a total of 24 PFIC cases (PFIC 1-2, PFIC 2-19, PFIC 3-3)...
September 2016: Journal of Clinical and Experimental Hepatology
Abdelmoneim Em Kheir, Wisal Ma Ahmed, Israa Gaber, Sara Ma Gafer, Badreldin M Yousif
Cholestasis in early infancy represents a diagnostic dilemma and most of these infants suffer either from extrahepatic biliary atresia or idiopathic neonatal hepatitis. Differentiation between the two conditions may be extremely difficult both clinically and biochemically, and a diagnostic liver biopsy is usually required. We report on a Sudanese infant who presented at the age of 4 weeks with prolonged cholestatic jaundice, abdominal ultrasound was inconclusive, HIDA scan was suggestive of extrahepatic biliary atresia and the diagnosis of idiopathic neonatal hepatitis was only reached by liver biopsy...
2016: Sudanese Journal of Paediatrics
Ashlee R Stiles, Mariella T Simon, Alexander Stover, Shaya Eftekharian, Negar Khanlou, Hanlin L Wang, Shino Magaki, Hane Lee, Kate Partynski, Nagmeh Dorrani, Richard Chang, Julian A Martinez-Agosto, Jose E Abdenur
In humans, mitochondrial DNA (mtDNA) depletion syndromes are a group of genetically and clinically heterogeneous autosomal recessive disorders that arise as a consequence of defects in mtDNA replication or nucleotide synthesis. Clinical manifestations are variable and include myopathic, encephalomyopathic, neurogastrointestinal or hepatocerebral phenotypes. Through clinical exome sequencing, we identified a homozygous missense variant (c.533C>T; p.Pro178Leu) in mitochondrial transcription factor A (TFAM) segregating in a consanguineous kindred of Colombian-Basque descent in which two siblings presented with IUGR, elevated transaminases, conjugated hyperbilirubinemia and hypoglycemia with progression to liver failure and death in early infancy...
September 2016: Molecular Genetics and Metabolism
Rima Fawaz, Ulrich Baumann, Udeme Ekong, Björn Fischler, Nedim Hadzic, Cara L Mack, Valérie A McLin, Jean P Molleston, Ezequiel Neimark, Vicky Lee Ng, Saul J Karpen
Cholestatic jaundice in infancy affects approximately 1 in every 2500 term infants and is infrequently recognized by primary providers in the setting of physiologic jaundice. Cholestatic jaundice is always pathologic and indicates hepatobiliary dysfunction. Early detection by the primary care physician and timely referrals to the pediatric gastroenterologist/hepatologist are important contributors to optimal treatment and prognosis. The most common causes of cholestatic jaundice in the first months of life are biliary atresia (BA, 25-40%) followed by an expanding list of monogenic disorders (25%), plus many unknown or multifactorial (e...
July 16, 2016: Journal of Pediatric Gastroenterology and Nutrition
Carlo Dionisi-Vici, Eyal Shteyer, Marcello Niceta, Cristiano Rizzo, Ben Pode-Shakked, Giovanni Chillemi, Alessandro Bruselles, Michela Semeraro, Ortal Barel, Eran Eyal, Nitzan Kol, Yael Haberman, Avishai Lahad, Francesca Diomedi-Camassei, Dina Marek-Yagel, Gideon Rechavi, Marco Tartaglia, Yair Anikster
Transient infantile hypertriglyceridemia (HTGT1; OMIM #614480) is a rare autosomal recessive disorder, which manifests in early infancy with transient hypertriglyceridemia, hepatomegaly, elevated liver enzymes, persistent fatty liver and hepatic fibrosis. This rare clinical entity is caused by inactivating mutations in the GPD1 gene, which encodes the cytosolic isoform of glycerol-3-phosphate dehydrogenase. Here we report on four patients from three unrelated families of diverse ethnic origins, who presented with hepatomegaly, liver steatosis, hypertriglyceridemia, with or without fasting ketotic hypoglycemia...
September 2016: Journal of Inherited Metabolic Disease
Aya M Fattouh, Engy A Mogahed, Nehal Abdel Hamid, Rodina Sobhy, Noha Saber, Hanaa El-Karaksy
BACKGROUND: There is deficiency of data about congenital heart defects (CHDs) in cholestatic disorders of infancy other than Alagille syndrome (AGS). We aimed to define the prevalence and types of CHDs in infants with various causes of cholestatic disorders of infancy. METHODS: This cross-sectional study was conducted on 139 infants presenting with cholestasis whether surgical or non-surgical. The study was carried out at the Pediatric Hepatology Unit, Cairo University Children's Hospital, Egypt...
September 2016: Archives of Disease in Childhood
Racha Khalaf, Claudia Phen, Sara Karjoo, Michael Wilsey
Cholestasis results from impairment in the excretion of bile, which may be due to mechanical obstruction of bile flow or impairment of excretion of bile components into the bile canaliculus. When present, cholestasis warrants prompt diagnosis and treatment. The differential diagnosis of cholestasis beyond the neonatal period is broad and includes congenital and acquired etiologies. It is imperative that the clinician differentiates between intrahepatic and extrahepatic origin of cholestasis. Treatment may be supportive or curative and depends on the etiology...
March 2016: Pediatric Gastroenterology, Hepatology & Nutrition
Nedim Hadžić, Henkjan J Verkade
No abstract text is available yet for this article.
September 2016: Journal of Pediatric Gastroenterology and Nutrition
J Zhang, H Yu
Progressive familial intrahepatic cholestasis is a common cause for jaundice and hepatic dysfunction in infancy. Recent studies have provided novel insights into the etiology and pathogenesis of this childhood disease. Japanese scholars have proposed that mutation in the gene encoding the tight junction protein 2 (TJP2) may result in progressive familial intrahepatic cholestasis type 4. Gaining a detailed understanding of the pathogenesis of this disease form, and of its molecular underpinnings, will promote the development of new and more effective diagnostic tools for infantile progressive familial intrahepatic cholestasis...
January 2016: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
Imeke Goldschmidt, Thomas Thum, Ulrich Baumann
Circulating microRNAs have been investigated as markers of disease severity in a variety of conditions. We examined whether circulating miR-21 and miR-29a could serve as markers of hepatic fibrosis and disease etiology in children with various liver diseases. Circulating miR-21 and miR-29a were determined in 58 children (21 female, age 0.1-17.8 (median 9.8) years)) with chronic liver disease and compared to histological grading of hepatic fibrosis. 22 healthy children served as controls for circulating miRNAs...
2016: Journal of Clinical Medicine
Tomáš Dědič, Milan Jirsa, Radan Keil, Michal Rygl, Jiri Šnajdauf, Radana Kotalová
Alagille syndrome may mimic biliary atresia in early infancy. Since mutations in JAG1 typical for Alagille syndrome type 1 have also been found in biliary atresia, we aimed to identify JAG1 mutations in newborns with proven biliary atresia (n = 72). Five biliary atresia patients with cholestasis, one additional characteristic feature of Alagille syndrome and ambiguous liver histology were single heterozygotes for nonsense or frameshift mutations in JAG1. No mutations were found in the remaining 67 patients...
2015: PloS One
Lena E Gottesman, Michael T Del Vecchio, Stephen C Aronoff
BACKGROUND: The etiologies of conjugated hyperbilirubinemia in infancy are diverse. OBJECTIVE: Determine the prevalence rates of the specific etiologies of conjugated hyperbilirubinemia in infancy. DATA SOURCES: EMBASE and Pubmed were searched electronically and the bibliographies of selected studies were search manually. The search was conducted independently by two authors. STUDY SELECTION: (1) prospective or retrospective case series or cohort study with 10 or more subjects; (2) consecutive infants who presented with conjugated hyperbilirubinemia; (3) subjects underwent appropriate diagnostic work-up for conjugated hyperbilirubinemia; (4) no specific diagnoses were excluded in the studied cohort...
2015: BMC Pediatrics
Salih Boga, Dhanpat Jain, Michael L Schilsky
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disorder of cholestasis of hepatocellular origin, typically seen in infancy or childhood caused by a defect in the ABCB4 located on chromosome 7. Here we report on an older patient, aged 15, who presented with biochemical testing that led to an initial consideration of a diagnosis of Wilson disease (WD) resulting in a delayed diagnosis of PFIC3. Diagnosis of PFIC3 was later confirmed by molecular studies that identified novel mutations in the ABCB4 gene...
September 2015: Pediatric Gastroenterology, Hepatology & Nutrition
Hwa Pyung Lee, Ben Kang, So Yoon Choi, Sanghoon Lee, Suk-Koo Lee, Yon Ho Choe
PURPOSE: Infants with Alagille syndrome (AGS) are occasionally misdiagnosed as biliary atresia and subsequently undergo Kasai operation. The purpose of this study was to investigate the outcome of patients with AGS who had previously received Kasai operation during infancy. METHODS: This retrospective study was conducted at the Department of Pediatrics, Samsung Medical Center. We compared the prognosis and mortality between those who had undergone Kasai operation during infancy (Kasai group) and those who had not (non-Kasai group)...
September 2015: Pediatric Gastroenterology, Hepatology & Nutrition
Ayano Inui, Takuji Hashimoto, Tsuyoshi Sogo, Haruki Komatsu, Takeyori Saheki, Tomoo Fujisawa
Citrin deficiency manifests as both neonatal intrahepatic cholestasis (NICCD) during early infancy and adult-onset type II citrullinemia during adulthood. Hepatic steatosis is most frequently observed in patients with citrin deficiency. Thus, non-alcoholic fatty liver disease that is unrelated to being overweight is considered one of the clinical features of citrin deficiency in children and adults. However, it remains unknown whether citrin deficiency is a cause of chronic hepatitis in the absence of fatty changes to the liver that occur during childhood...
April 2016: Hepatology Research: the Official Journal of the Japan Society of Hepatology
Thomas Götze, Holger Blessing, Christian Grillhösl, Patrick Gerner, André Hoerning
Cholestatic jaundice in early infancy is a complex diagnostic problem. Misdiagnosis of cholestasis as physiologic jaundice delays the identification of severe liver diseases. In the majority of infants, prolonged physiologic jaundice represent benign cases of breast milk jaundice, but few among them are masked and caused by neonatal cholestasis (NC) that requires a prompt diagnosis and treatment. Therefore, a prolonged neonatal jaundice, longer than 2 weeks after birth, must always be investigated because an early diagnosis is essential for appropriate management...
2015: Frontiers in Pediatrics
Mei-Hong Zhang, Jing-Yu Gong, Jian-She Wang
Citrin deficiency typically presents as neonatal intrahepatic cholestasis and resolves in late infancy. Here we report a case of citrin deficiency that presented as acute liver failure in late infancy in an apparently healthy child. The full-term male infant weighed 3400 g at birth, and exhibited normal development for eight months, at which time he contracted bronchial pneumonia. The infant developed jaundice and laboratory tests indicated elevated bilirubin and ammonia levels and an abnormal coagulation profile...
June 21, 2015: World Journal of Gastroenterology: WJG
Anshu Srivastava
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...
March 2014: Journal of Clinical and Experimental Hepatology
Radana Kotalova, Petra Dusatkova, Ondrej Cinek, Lenka Dusatkova, Tomas Dedic, Tomas Seeman, Jan Lebl, Stepanka Pruhova
Hepatocyte nuclear factor 1-β (HNF1B) defects cause renal cysts and diabetes syndrome (RCAD), or HNF1B-maturity-onset diabetes of the young. However, the hepatic phenotype of HNF1B variants is not well studied. We present a female neonate born small for her gestational age [birth weight 2360 g; -2.02 standard deviations (SD) and birth length 45 cm; -2.40 SD at the 38(th) gestational week]. She developed neonatal cholestasis due to biliary atresia and required surgical intervention (portoenterostomy) when 32-d old...
February 28, 2015: World Journal of Gastroenterology: WJG
Seyed Mohsen Dehghani, Neda Efazati, Iraj Shahramian, Mahmood Haghighat, Mohammad Hadi Imanieh
AIM: The aim of this study is to find-out the possible etiologies in Iranian infants less than three months in Shiraz, South of Iran. BACKGROUND: Cholestatic jaundice most probably occurs due to a pathological condition and the most frequent causes in early infancy are neonatal hepatitis and biliary atresia. Early diagnosis and treatment of infantile cholestasis can improve prognosis of liver diseases by prevention of the complications of these disorders. PATIENTS AND METHODS: In this retrospective study, 122 infants under 3 months of age with cholestasis were studied in Nemazee Hospital (affiliated to Shiraz University of Medical Sciences) during the years 2001-2011...
2015: Gastroenterology and Hepatology From Bed to Bench
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