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Cholestasis in infancy

Takao Togawa, Tatsuki Mizuochi, Tokio Sugiura, Hironori Kusano, Ken Tanikawa, Takato Sasaki, Fumio Ichinose, Seiichi Kagimoto, Takahisa Tainaka, Hiroo Uchida, Shinji Saitoh
OBJECTIVE: To clarify the clinical, pathologic, and genetic features of neonatal Dubin-Johnson syndrome. STUDY DESIGN: Ten patients with neonatal Dubin-Johnson syndrome were recruited from 6 pediatric centers in Japan between September 2013 and October 2016. Clinical and laboratory course, macroscopic and microscopic liver findings, and molecular genetic findings concerning ATP-binding cassette subfamily C member 2 (ABCC2) were retrospectively and prospectively examined...
February 28, 2018: Journal of Pediatrics
Dominic Lenz, Patricia McClean, Aydan Kansu, Penelope E Bonnen, Giusy Ranucci, Christian Thiel, Beate K Straub, Inga Harting, Bader Alhaddad, Bianca Dimitrov, Urania Kotzaeridou, Daniel Wenning, Raffaele Iorio, Ryan W Himes, Zarife Kuloğlu, Emma L Blakely, Robert W Taylor, Thomas Meitinger, Stefan Kölker, Holger Prokisch, Georg F Hoffmann, Tobias B Haack, Christian Staufner
PurposeBiallelic mutations in SCYL1 were recently identified as causing a syndromal disorder characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure. The occurrence of SCYL1 deficiency among patients with previously undetermined infantile cholestasis or acute liver failure has not been studied; furthermore, little is known regarding the hepatic phenotype.MethodsWe aimed to identify patients with SCYL1 variants within an exome-sequencing study of individuals with infantile cholestasis or acute liver failure of unknown etiology...
February 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Emanuele Nicastro, Lorenzo D'Antiga
Next generation sequencing (NGS) has revolutionized the analysis of human genetic variations, offering a highly cost-effective way to diagnose monogenic diseases (MDs). Because nearly half of the children with chronic liver disorders have a genetic cause and approximately 20% of pediatric liver transplantations are performed in children with MDs, NGS offers the opportunity to significantly improve the diagnostic yield in this field. Among the NGS strategies, the use of targeted gene panels has proven useful to rapidly and reliably confirm a clinical suspicion, whereas the whole exome sequencing (WES) with variants filtering has been adopted to assist the diagnostic workup in unclear clinical scenarios...
February 2018: Liver Transplantation
Keisuke Wada, Hironori Kobayashi, Aisa Moriyama, Yasuhiro Haneda, Yuichi Mushimoto, Yuki Hasegawa, Kazumichi Onigata, Koji Kumori, Noriyoshi Ishikawa, Riruke Maruyama, Tsuyoshi Sogo, Lynne Murphy, Takeshi Taketani
Congenital combined pituitary hormone deficiency (CPHD) may present with cholestasis in the neonate or during early infancy. However, its precise mechanism is unknown. A 3-mo-old boy presented with cryptorchidism and hypoplastic scrotum after birth. Neonatal jaundice was noted but temporarily improved with phototherapy. Jaundice recurred at 2 mo of age. Elevated direct bilirubin (D-Bil) and liver dysfunction were found but cholangiography showed no signs of biliary atresia (BA). Liver biopsy findings showed giant cell formation of hepatocytes with hypoplastic bile ducts...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
Jing-Yu Gong, Kenneth D R Setchell, Jing Zhao, Wujuan Zhang, Brian Wolfe, Yi Lu, Karolin Lackner, A S Knisely, Neng-Li Wang, Chen-Zhi Hao, Mei-Hong Zhang, Jian-She Wang
OBJECTIVES: Cerebrotendinous xanthomatosis (CTX) is caused by defects in sterol 27-hydroxylase (CYP27A1, encoded by CYP27A1), a key enzyme in the bile acid synthesis pathway. CTX usually presents as neurologic disease in adults or older children. The rare reports of CTX manifest as neonatal cholestasis assess the cholestasis as transient, with patient survival. Our experience differs. METHODS: Homozygous or compound heterozygous CYP27A1 mutations were detected in 8 neonatal cholestasis patients by whole exome sequencing, panel sequencing, or Sanger sequencing...
November 2017: Journal of Pediatric Gastroenterology and Nutrition
Hassib Narchi, Suhailah Alhefeiti, Fatmah Althabahi, Jozef Hertecant, A S Knisely, Abdul-Kader Souid
We report two Omani brothers with intrahepatic cholestasis that resolved with supportive care. In one, cholestasis began in infancy; in the other, only at the age of 18 months. Whole exome sequencing identified a novel homozygous variant, c.379C>G (p.L127V) in ATP8B1. Those attending patients with cholestasis from the Arabian peninsula should be aware of this mutation and of the variation in its phenotypic effects.
September 2017: Saudi Journal of Gastroenterology: Official Journal of the Saudi Gastroenterology Association
Hanaa El-Karaksy, Dalia Hamed, Hanan Fouad, Engy Mogahed, Heba Helmy, Fotouh Hasanain
BACKGROUND AND STUDY AIMS: Neonatal cholestasis can be associated with ocular findings that might aid in its diagnosis, e.g., Alagille syndrome (AGS) and Niemann Pick disease (NPD). We aimed to investigate the frequency of ocular manifestations in infants with cholestasis. PATIENTS AND METHODS: This cross-sectional study included cholestatic infants presenting to the Paediatric Hepatology Unit, Cairo University Paediatric Hospital, Cairo, Egypt. All infants underwent examination of lid, ocular motility, anterior and posterior segments and measurement of intraocular pressure, cycloplegic refraction, ocular ultrasonography and vision...
June 2, 2017: Arab Journal of Gastroenterology: the Official Publication of the Pan-Arab Association of Gastroenterology
Josef Finsterer, Fulvio Alexandre Scorza
The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms...
May 2017: Biomedical Reports
Ira Shah, Sujeet Chilkar
Progressive familial intrahepatic cholestasis (PFIC) is a chronic cholestasis syndrome that begins in infancy and usually progresses to cirrhosis within the first decade of life. There are three varieties of PFIC described: PFIC-1 occurs due to mutations in the ATP8B1 gene mapped to 18q21.31, PFIC-2 due to mutations in ABCB11 mapped to 2q24, and PFIC-3 due to mutations in ABCB4 located on 7q21.12. We report an Indian child whose mutation analysis was suggestive of PFIC-2. He underwent a biliary diversion at 3½ years of age but subsequently died secondary to massive hematemesis...
June 2017: Journal of Pediatric Genetics
Orith Waisbourd-Zinman, Lea F Surrey, Anna E Schwartz, Pierre A Russo, Jessica Wen
Progressive Familial Intrahepatic Cholestasis type 2 (PFIC2) is a rare cholestatic disorder diagnosed in infancy or childhood that can lead to severe hepatic fibrosis and liver failure. Mutations in the ABCB11 gene result in a deficiency of the bile salt export protein (BSEP) and accumulation of bile inside the hepatocytes. Hepatocellular carcinoma is another condition associated with severe forms of deletion mutations in the ABCB11 gene. Treatment options including ursodeoxycholic acid biliary diversion have mixed outcomes and some patients require liver transplantation...
May 2017: Annals of Hepatology
Anjali Sharma, Ujjal Poddar, Shikha Agnihotry, Rakesh Aggarwal
BACKGROUND: Progressive familial intrahepatic cholestasis has been only infrequently reported from India. CASE CHARACTERISTICS: An Indian girl with progressive cholestatic liver disease beginning during infancy, normal gamma-glutamyl transpeptidase levels, parental consanguinity, positive family history and a fatal outcome. OBSERVATION: A novel, homozygous mutation (c.[589_592inv;592_593insA]) in ATP8B1 gene, with a markedly truncated protein (p...
December 15, 2016: Indian Pediatrics
Yi-Ling Qiu, Jing-Yu Gong, Jia-Yan Feng, Ren-Xue Wang, Jun Han, Teng Liu, Yi Lu, Li-Ting Li, Mei-Hong Zhang, Jonathan A Sheps, Neng-Li Wang, Yan-Yan Yan, Jia-Qi Li, Lian Chen, Christoph H Borchers, Bence Sipos, A S Knisely, Victor Ling, Qing-He Xing, Jian-She Wang
Hereditary cholestasis in childhood and infancy with normal serum gamma-glutamyltransferase (GGT) activity is linked to several genes. Many patients, however, remain genetically undiagnosed. Defects in myosin VB (MYO5B; encoded by MYO5B) cause microvillus inclusion disease (MVID; MIM251850) with recurrent watery diarrhea. Cholestasis, reported as an atypical presentation in MVID, has been considered a side effect of parenteral alimentation. Here, however, we report on 10 patients who experienced cholestasis associated with biallelic, or suspected biallelic, mutations in MYO5B and who had neither recurrent diarrhea nor received parenteral alimentation...
May 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Melissa G Andrianov, Ruba K Azzam
Jaundice is a key manifestation of hepatobiliary disease in all age groups. Jaundice is a common finding in the first 2 weeks after birth, occurring in 2.4% to 15% of newborns. The neonatal liver is at increased susceptibility to cholestasis, with an incidence ranging from 1 in 2,500 to 1 in 5,000 live births. Etiologies vary, but the most common is biliary atresia. In 2004, the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition published guidelines for the evaluation of cholestasis that clearly stated any infant with jaundice persisting beyond age 2 weeks (3 weeks in breast-fed infants with an otherwise normal history and physical examination) should be evaluated with a fractionated serum bilirubin level...
December 1, 2016: Pediatric Annals
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 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
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
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