Diversity of Disorders Causing Neonatal Cholestasis â€“ The Experience of a Tertiary Pediatric Center in Germany

Hoerning, André; Raub, Simon; Dechêne, Alexander; Brosch, Michelle N.; Kathemann, Simone; Hoyer, Peter F.; Gerner, Patrick

doi:10.3389/fped.2014.00065

Cited by 53 publications

(55 citation statements)

References 39 publications

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“…Pada ikterus terkonjugasi gejala biasanya berat dan mengindikasikan penyebab yang mendasarinya, seperti defek produksi intrahepatal, transpor transmembran dari empedu, yaitu kolestasis intrahepatal (IH) dan obstruksi atau kolestasis ekstrahepatal (EH) yang mengakibatkan hambatan aliran empedu dan terakumulasi dalam hepar, darah atau saluran ekstrahepatal, serta mempunyai risiko tinggi untuk terjadi komplikasi pada bayi. [1][2][3] Kolestasis adalah hambatan aliran empedu yang menyebabkan retensi berbagai substansi yang seharusnya diekskresikan dalam kandung empedu dengan bilirubin direk >1 mg/dL bila bilirubin total <5 mg/dL atau bilirubin direk >20% dari bilirubin total bila kadar bilirubin total >5 mg/dL.…”

Section: Pendahuluanunclassified

Perbedaan Manifestasi Klinis dan Laboratorium Kolestasis Intrahepatal dengan Ekstrahepatal pada Bayi

Prasetyo¹,

Ermaya²,

Martiza³

2016

mkb

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AbstrakIkterus fisiologis sering didapatkan pada bayi dan kebanyakan gejalanya ringan. Gejala ikterik biasanya akan menghilang dalam 2 minggu setelah lahir. Pada ikterus yang terkonjugasi terjadi defek produksi intrahepatal, transpor transmembran dari empedu, yaitu kolestasis intrahepatal (IH) atau obstruksi kolestasis ekstrahepatal (EH) yang mengakibatkan hambatan empedu. Penelitian ini dilakukan untuk melihat perbedaan manifestasi klinis dan laboratorium kolestasis IH dengan EH pada bayi. Studi potong lintang dilakukan pada 72 bayi dengan kolestasis yang datang ke Rumah Sakit Dr. Hasan Sadikin Bandung, periode Januari 2014-Desember 2015. Analisis data dilakukan dengan uji Pearson Chi-kuadrat dan Mann-Whitney. Subjek terdiri atas 43 (60%) laki-laki dan 29 (40%) perempuan, kolestasis IH sebanyak 61 orang (85%), dan EH sebanyak 11 (15%). Pada penelitian ini didapatkan perbedaan bermakna manifestasi klinis asites antara kolestasis IH dan EH (p=0,047), sedangkan venektasi, hepatomegali, dan splenomegali tidak didapatkan perbedaan bermakna. Pada pemeriksaan warna feses tidak didapatkan perbedaan bermakna (p=0,936), demikian juga hasil laboratorium bilirubin total, bilirubin direk, glutamat oksaloasetat transaminase, glutamat piruvat transaminase, alkali fosfatase, dan gama glutamil transferase serum tidak berbeda bermakna. Simpulan, didapatkan perbedaan manifestasi klinis asites, sedangkan manifestasi klinis yang lain dan hasil laboratorium tidak didapatkan perbedaan antara kolestasis IH dan EH. [MKB. 2016;48(1):45-50] Kata kunci: Kolestasis ekstrahepatal, kolestasis intrahepatal, laboratorium, manifestasi klinis Differences of Clinical Manifestation and Laboratory Findings in IntraHepatic and Extra-Hepatic Cholestasis in Infants AbstractPhysiological jaundice found in infants and most symptoms are often mild. Jaundice symptoms usually disappear within 2 weeks after birth. In conjugated jaundice defects in intra-hepatic production, transmembran transport from bile, i.e. cholestasis intra hepatic (IH), or extra-hepatic (EH) obstruction/cholestasis occur, resulting in bile barriers. This study was conducted to look at the differences in the clinical and laboratory manifestations of IH and EH cholestasis in infants. A cross-sectional study was performed on 72 infants with cholestasis who came to Dr. Hasan Sadikin General Hospital Bandung, during the period of January 2014-December 2015. Data analysis was performed with Pearson Chi-square test and Mann-Whitney. Subjects consisted of 43 (60%) infant boys and 29 (40%) infant girls, IH cholestasis were 61 (85%) and EH cholestasis were 11 (15.3%). Significant differences in the clinical manifestations of acites with IH and EH cholestasis were found (p=0.047), whereas insignificant differences in venectation, hepatomegaly and splenomegaly were observed. On examination of stool color, no significant difference was found (p=0.936). The same was true for laboratory results of total bilirubin, direct bilirubin, serum glutamic oxaloacetic transaminase, glutamic pyruvic transam...

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Section: Pendahuluanunclassified

Perbedaan Manifestasi Klinis dan Laboratorium Kolestasis Intrahepatal dengan Ekstrahepatal pada Bayi

Prasetyo¹,

Ermaya²,

Martiza³

2016

mkb

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“…Among all causes of neonatal cholestasis, biliary atresia is the most prevalent, amounting to approximately 40% of all cases of neonatal cholestasis [3,4,5,9]. The overall incidence of neonatal cholestasis is ∼1:2,500 births [10], with varying incidences of biliary atresia reported around the world.…”

Section: Biliary Atresia Epidemiology and Salient Clinical Conceptsmentioning

confidence: 99%

“…Ultrasonographic imaging may reveal an absent or atretic gallbladder, as well as fibrotic regions in the porta hepatis (‘triangular cord') and, intriguingly, increased subcapsular flow [9,14,15,16,17]. The finding of increased subcapsular flow may perhaps provide a readily utilized screening technique to help differentiate biliary atresia from other forms of neonatal cholestasis [14].…”

Section: Biliary Atresia Epidemiology and Salient Clinical Conceptsmentioning

confidence: 99%

Genetic Contributors and Modifiers of Biliary Atresia

Mezina

Karpen²

2015

Dig Dis

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To date, the etiology and pathogenic underpinning of the progression of the most prevalent serious neonatal liver disease, biliary atresia, remains elusive. This disease presents as an aggressive form of neonatal cholestasis characterized by the destruction and obliteration of the extrahepatic bile ducts within the first few weeks of life and a rapid progression of biliary fibrosis, likely due to unremitting cholestasis and retention of biliary constituents including bile acids. In ∼5% of patients, biliary atresia is associated with laterality features, suggesting a genetic underpinning to a disease that begins soon after birth. However, biliary atresia does not occur within families and twins are discordant, indicating an absence of strict mendelian inheritance. Despite this, genes related to bile duct dysmorphogenesis/ciliopathies overlapping with features of biliary atresia in both humans and nonhuman model systems have been proposed. Taken together, strict genetic etiologies leading to a common pathway of a neonatal cholangiopathy resulting in biliary atresia remain elusive. Contributions from fibrogenesis- and inflammation-based studies suggest that early engagement of these pathways contributes to disease progression, but a recent double-blind study did not suggest any benefit from early use of corticosteroids. However, there are genetic contributions to the adaptation and response to cholangiopathies and cholestasis that may be present in certain populations that likely impact upon the response to hepatoportoenterostomy and subsequent biliary tract function. Studies utilizing next generation sequencing technologies (e.g., exome analysis) are ongoing in several laboratories around the world; they are expected to provide insights into genetic contributions to biliary atresia outcomes. Altogether, combinations of exome sequencing and large population studies are expected to reveal causative and modifying genes relevant to patients with biliary atresia as a means to provide therapeutic targets and potential opportunities for genetic screening.

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“…The most common identified causes in the first months include biliary atresia, idiopathic neonatal hepatitis, infection, and a multiplicity of other causes [1][2][3] including some 20 lysosomal storage disorders [4,5] one of which is GD.…”

Section: Introductionmentioning

confidence: 99%

A Newborn with a Blueberry Muffin Rash, Hepatosplenomegaly, Thrombocytopenia and Severe Cholestatic Jaundice at Birth

Lopez¹,

Pryce²,

Maisels³

2017

Clin Pediatr OA

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Neonatal cholestasis is characterized by an elevation of conjugated bilirubin. It occurs in approximately 1 in 2500 term infants. Gaucher Disease (GD) is an exceptionally rare cause of neonatal cholestasis. We report a male term newborn with a blueberry muffin rash, hepatomegaly and massive splenomegaly at birth. His total serum bilirubin (TSB)/direct was 13.5/11.9 mg/dL, and platelet count 20,000 bil/L. A leukocyte beta-glucosidase level was 0 and full sequencing of the GBA gene showed that he was homozygous for the pathogenic complex allele p.D409H and a second variant p.H255Q, consistent with the diagnosis of the severe phenotype GD type 2.

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Diversity of Disorders Causing Neonatal Cholestasis â€“ The Experience of a Tertiary Pediatric Center in Germany

Cited by 53 publications

References 39 publications

Perbedaan Manifestasi Klinis dan Laboratorium Kolestasis Intrahepatal dengan Ekstrahepatal pada Bayi

Perbedaan Manifestasi Klinis dan Laboratorium Kolestasis Intrahepatal dengan Ekstrahepatal pada Bayi

Genetic Contributors and Modifiers of Biliary Atresia

A Newborn with a Blueberry Muffin Rash, Hepatosplenomegaly, Thrombocytopenia and Severe Cholestatic Jaundice at Birth

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