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Differential diagnosis of neonatal cholestasis

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https://www.readbyqxmd.com/read/28838453/cholestasis-after-pediatric-liver-transplantation-recurrence-of-a-progressive-familial-intrahepatic-cholestasis-phenotype-as-a-rare-differential-diagnosis-a-case-report
#1
B Prusinskas, S Kathemann, D Pilic, B Hegen, P Küster, V Keitel, D Häussinger, R Büscher, H A Baba, P F Hoyer, E Lainka
INTRODUCTION: Nonobstructive cholestasis after pediatric liver transplantation is a common diagnostic and therapeutic dilemma. We describe a girl with neonatal cholestasis because of progressive familial intrahepatic cholestasis 2 (PFIC-2) and presence of a homozygous splice site mutation in the ABCB11 gene. Liver transplantation was performed because of end-stage liver disease at the age of 6. Cholestasis with normal gamma-glutamyl transferase (GGT) developed 8 years after liver transplantation...
September 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28818034/utility-of-hepatobiliary-scintigraphy-in-diagnosing-or-excluding-biliary-atresia-in-premature-neonates-and-full-term-infants-with-conjugated-hyperbilirubinemia-who-received-parenteral-nutrition
#2
Karine Barseghyan, Rangasamy Ramanathan, Thomas Chavez, Susan Harlan, Chuan-Hao Lin, Tania Mitsinikos, Claire McLean
PURPOSE: Hepatobiliary scintigraphy (HBS) is used to aid in the diagnosis of Biliary Atresia in full-term infants with conjugated hyperbilirubinemia. There is little information on the utility of the HBS in premature infants with conjugated hyperbilirubinemia and infants with parenteral nutrition associated cholestasis (PNAC). The purpose of this study is to assess the utility of HBS in differentiating Biliary Atresia and PNAC in premature neonates and full-term infants who received parenteral nutrition (PN)...
August 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28687948/role-of-hepatobiliary-scintigraphy-and-preoperative-liver-biopsy-for-exclusion-of-biliary-atresia-in-neonatal-cholestasis-syndrome
#3
Ankur Mandelia, Richa Lal, Nijagal Mutt
All diagnostic algorithms for Neonatal Cholestasis Syndrome (NCS) focus on differentiating numerous medical causes from Biliary Atresia (BA). No preoperative diagnostic algorithm has 100% diagnostic accuracy for BA and yet, timely diagnosis is crucial to optimize surgical outcome. Markers for high index of clinical suspicion for BA are: a "usually" well thriving infant with conjugated hyperbilirubinemia, raised gamma glutamyl transpeptidase, persistently "acholic" stools, firm hepatomegaly with dysmorphic, hypoplastic gall bladder...
July 8, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28516797/blood-glucose-and-insulin-and-correlation-of-slc25a13-mutations-with-biochemical-changes-in-niccd-patients
#4
Chun-Ting Lu, Qi-Ping Shi, Ze-Jian Li, Jiong Li, Lie Feng
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a hereditary metabolic disease arising from biallelic mutations of SLC25A13. This study aimed to explore the characteristics of fasting blood glucose (FBG), fasting insulin (FINS) and C-peptide (C-P) levels in NICCD infants, analyze their SLC25A13 genetic mutations and further discuss the correlation between SLC25A13 genetic mutations and biochemical changes. Seventy-two cases of infants with cholestasis disease were gathered. Among them, 36 cases with NICCD diagnosis were case group...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28506343/-current-status-of-research-on-infantile-cholestatic-liver-disease-in-china-a-visualization-analysis
#5
Qiong Liao, Chao-Min Wan, Yu Zhu, Xiao-Yan Yang, Min Shu
OBJECTIVE: To investigate the current status of research on infantile cholestatic liver disease in China and future research trends. METHODS: A co-word analysis was performed in October 2016. Document retrieval and screening were performed in the Chinese databases CNKI and Wanfang Data using "cholestasis" and "infant" as key words. Excel 2010 was used to establish a co-occurrence matrix of high-frequency key words, and Ucinet 6.0 and Netdraw were used to develop a visualized network of these high-frequency key words...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28493866/initial-assessment-of-the-infant-with-neonatal-cholestasis-is-this-biliary-atresia
#6
MULTICENTER STUDY
Benjamin L Shneider, Jeff Moore, Nanda Kerkar, John C Magee, Wen Ye, Saul J Karpen, Binita M Kamath, Jean P Molleston, Jorge A Bezerra, Karen F Murray, Kathleen M Loomes, Peter F Whitington, Philip Rosenthal, Robert H Squires, Stephen L Guthery, Ronen Arnon, Kathleen B Schwarz, Yumirle P Turmelle, Averell H Sherker, Ronald J Sokol
INTRODUCTION: Optimizing outcome in biliary atresia (BA) requires timely diagnosis. Cholestasis is a presenting feature of BA, as well as other diagnoses (Non-BA). Identification of clinical features of neonatal cholestasis that would expedite decisions to pursue subsequent invasive testing to correctly diagnose or exclude BA would enhance outcomes. The analytical goal was to develop a predictive model for BA using data available at initial presentation. METHODS: Infants at presentation with neonatal cholestasis (direct/conjugated bilirubin >2 mg/dl [34...
2017: PloS One
https://www.readbyqxmd.com/read/28051047/evaluation-of-the-use-of-laparoscopic-guided-cholecystocholangiography-and-liver-biopsy-in-definitive-diagnosis-of-neonatal-cholestatic-jaundice
#7
Khalid Shreef, Abdullah Alhelal
BACKGROUND: Once it is established that a jaundiced infant has direct hyperbilirubinemia, the principal diagnostic concern is to differentiate hepatocellular from obstructive cholestasis. Traditional tests such as ultrasonography, percutaneous liver biopsy and technetium 99 m hepatobiliary iminodiacetic acid (HIDA) scan are often not sufficiently discriminating. Definitive exclusion of biliary atresia (BA) in the infant with cholestatic jaundice usually requires mini-laparotomy and intra-operative cholangiography...
October 2016: African Journal of Paediatric Surgery: AJPS
https://www.readbyqxmd.com/read/27651555/idiopathic-neonatal-hepatitis-or-extrahepatic-biliary-atresia-the-role-of-liver-biopsy
#8
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
https://www.readbyqxmd.com/read/27630751/cytomegalovirus-may-mimic-the-presentation-of-intrahepatic-cholestasis-and-hemolysis-elevated-liver-enzymes-and-low-platelets-in-immunosuppressed-pregnant-women
#9
Gurleen Wander, Francesa Neuberger, Mandish K Dhanjal, Catherine Nelson-Piercy, May Ching Soh
Most published cases of cytomegalovirus infection in pregnancy relate to congenital abnormalities in neonates infected in early pregnancy, while the mother remains asymptomatic. We describe a diagnostically challenging case of an immunosuppressed woman with scleroderma who developed deranged liver function tests attributed to intrahepatic cholestasis of pregnancy and haemolysis, elevated liver enzymes and low platelets syndrome but was ultimately found to have disseminated cytomegalovirus. Cytomegalovirus can present in a myriad of ways...
September 2016: Obstetric Medicine
https://www.readbyqxmd.com/read/27429428/guideline-for-the-evaluation-of-cholestatic-jaundice-in-infants-joint-recommendations-of-the-north-american-society-for-pediatric-gastroenterology-hepatology-and-nutrition-and-the-european-society-for-pediatric-gastroenterology-hepatology-and-nutrition
#10
Rima Fawaz, Ulrich Baumann, Udeme Ekong, Björn Fischler, Nedim Hadzic, Cara L Mack, Valérie A McLin, Jean P Molleston, Ezequiel Neimark, Vicky L 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 (25%-40%) followed by an expanding list of monogenic disorders (25%), along with many unknown or multifactorial (eg, parenteral nutrition-related) causes, each of which may have time-sensitive and distinct treatment plans...
January 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/27250337/visceral-symptoms-as-a-key-diagnostic-sign-for-the-early-infantile-form-of-niemann-pick-disease-type-c-in-a-russian-patient-a-case-report
#11
A V Degtyareva, S V Mikhailova, E Y Zakharova, E L Tumanova, A A Puchkova
BACKGROUND: Niemann-Pick disease type C is a rare metabolic disease characterized by progressive neurological deterioration with childhood onset, and often results in premature mortality. Niemann-Pick disease type C has an extremely heterogeneous clinical presentation with a wide range of visceral and neurological signs and symptoms that are not specific to the disease, and which progress over varied periods of time. The incidence and epidemiology of Niemann-Pick disease type C in Russia have not been characterized...
June 1, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27066444/cholestasis-beyond-the-neonatal-and-infancy-periods
#12
REVIEW
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
https://www.readbyqxmd.com/read/26995515/liquid-chromatography-mass-spectroscopy-as-a-tool-in-the-rapid-diagnosis-of-biliary-atresia-a-pilot-study
#13
Marie Nguyen, Avafia Dossa, Jessica Zagory, Jamie Golden, Anne Roberts, Xiaowei Fu, Kasper Wang, Christopher P Gayer
INTRODUCTION: Biliary atresia (BA) is a neonatal obstructive cholangiopathy requiring rapid intervention to prevent end-stage liver failure and death. Low bile acid levels in stool, detectable with high-performance liquid chromatography-mass spectroscopy, may reflect extrahepatic biliary obstruction in cholestasis. HYPOTHESIS: Stool bile acid content can differentiate BA from non-BA forms of cholestasis. METHODS: Stool samples from four healthy and nine cholestatic patients were collected following internal review board approval...
June 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/26845599/%C3%A2-hepatic-immunohistochemistry-of-bile-transporters-in-progressive-familial-intrahepatic-cholestasis
#14
Mohamed A El-Guindi, Mostafa M Sira, Mohsen H Hussein, Nermine A Ehsan, Nancy M Elsheikh
UNLABELLED:  Background. Diagnosis of progressive familial intrahepatic cholestasis (PFIC) is a challenging matter that involves the summation of clinical, laboratory, radiological, and liver histological parameters; in addition to specific investigations to exclude other causes of neonatal cholestasis. The aim of this study was to evaluate liver tissue immunohistochemistry of bile salt export pump (BSEP) and multidrug resistance 3 (MDR3) proteins in differentiating PFIC from other causes of neonatal cholestasis, particularly, when genotyping is unavailable...
March 2016: Annals of Hepatology
https://www.readbyqxmd.com/read/26684313/comparison-of-different-noninvasive-diagnostic-methods-for-biliary-atresia-a-meta-analysis
#15
Jin-Peng He, Yun Hao, Xiao-Lin Wang, Xiao-Jin Yang, Jing-Fan Shao, Jie-Xiong Feng
BACKGROUND: This study was undertaken to retrospectively analyze the accuracy of different methods in differentiating biliary atresia from neonatal jaundice. METHODS: A search was made in MEDLINE, and the Web of Science for relevant original articles published in English; methodological quality of the included studies was also assessed. Two reviewers extracted data independently. Studies were pooled, summary receiver operating characteristics curve and diagnostic odds ratio (DOR) with corresponding confidence intervals were calculated...
February 2016: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/26577909/a-pathological-scoring-system-in-the-diagnosis-and-judgment-of-prognosis-of-biliary-atresia
#16
Gong Chen, Ping Xue, Shan Zheng, Lian Chen, Yangyang Ma
OBJECTIVE: The purpose of this study was to evaluate the diagnostic and prognostic value of a histological scoring system in biliary atresia (BA). METHODS: From June 2013 to July 2014, 86 wedge liver biopsy specimens were obtained from infants with neonatal cholestasis (58 patients with biliary atresia and 28 patients with non-obstructive cholestasis as control) in our center. A pathologist, single-blinded to the final diagnosis, made the histological diagnosis individually based on an 8-feature (liver fibrosis, portal ductal proliferation, bile plugs in portal ductules, cholestasis, hepatocellular changes inflammatory cells infiltration in portal region, extramedullary hematopoiesis, and ductal plate malformation), 21-point (0 to 21) scoring system...
December 2015: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/26449593/distinct-plasma-bile-acid-profiles-of-biliary-atresia-and-neonatal-hepatitis-syndrome
#17
Kejun Zhou, Jun Wang, Guoxiang Xie, Ying Zhou, Weihui Yan, Weihua Pan, Yanran Che, Ting Zhang, Linda Wong, Sandi Kwee, Yongtao Xiao, Jie Wen, Wei Cai, Wei Jia
Biliary atresia (BA) is a severe chronic cholestasis disorder of infants that leads to death if not treated on time. Neonatal hepatitis syndrome (NHS) is another leading cause of neonatal cholestasis confounding the diagnosis of BA. Recent studies indicate that altered bile acid metabolism is closely associated with liver injury and cholestasis. In this study, we systematically measured the bile acid metabolome in plasma of BA, NHS, and healthy controls. Liver bile acids were also measured using biopsy samples from 48 BA and 16 NHS infants undergoing operative cholangiography as well as 5 normal adjacent nontumor liver tissues taken from hepatoblastoma patients as controls...
November 6, 2015: Journal of Proteome Research
https://www.readbyqxmd.com/read/26428285/italian-guidelines-for-the-management-and-treatment-of-neonatal-cholestasis
#18
REVIEW
Carlo Dani, Simone Pratesi, Francesco Raimondi, Costantino Romagnoli
Hyperbilirubinemia is a frequent condition affecting newborns during the first two weeks of life and when it lasts more than 14 days it is defined as prolonged jaundice. This condition requires differential diagnosis between the usually benign unconjugated hyperbilirubinemia and the pathological conjugated hyperbilirubinemia, that is mainly due to neonatal cholestasis. It is important that the diagnosis of neonatal cholestasis be well-timed to optimize its management, prevent worsening of the patient's outcome, and to avoid premature, painful, expensive, and useless tests...
October 1, 2015: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/26190322/chronic-hepatitis-without-hepatic-steatosis-caused-by-citrin-deficiency-in-a-child
#19
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
https://www.readbyqxmd.com/read/26190184/urinary-urobilinogen-in-biliary-atresia-a-missed-simple-and-cheap-diagnostic-test
#20
Mohamed Abdel-Salam El-Guindi, Hala Hany El-Said, Mohsen Hassan Hussein, Rana El-Sayed Nassar, Ahmad Mohamed Sira
AIM: Early diagnosis of biliary atresia (BA) is of utmost importance for good outcome; however, it is sometimes difficult due to the overlapping diagnostic test results with other causes of neonatal cholestasis. Moreover, many diagnostic tests are costly, invasive and not available in all centers, especially in developing countries. So, we aimed to investigate the diagnostic performance of urinary urobilinogen; an easy, cheap test that was not tested before in BA. METHODS: Seventy-five infants divided into three age- and sex-matched groups (BA, non-BA cholestasis and healthy control group) were recruited for the study...
February 2016: Hepatology Research: the Official Journal of the Japan Society of Hepatology
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