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Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation

World Journal of Gastroenterology 2017年第29期23卷 5295-5303页

作者： Philipp Ellinger Jan Stindt Carola Droge Katharina Sattler Claudia Stross Stefanie Kluge Diran Herebian Sander HJ Smits Martin Burdelski Sebastian Schulz-Jürgensen Antje Ballauff Jan Schulte am Esch Ertan Mayatepek Dieter Haussinger Ralf Kubitz Lutz Schmitt In-stitute of Biochemistry Hein-rich-Hein-e-Un-iversity Düsseldorf Medical Faculty Departmen-t of Gastroen-terology Hepatology an-d In-fectious Diseases Hein-rich-Hein-e-Un-iversity Düsseldorf departmen-t of Gen-eral pediatrics Neon-atology an-d Pediatric Cardiology Medical Faculty Hein-rich-Hein-e-Un-iversity Düsseldorf departmen-t of Paediatrics Un-iversity Hospital Schleswig Holstein- departmen-t of Paediatrics Helios Clin-ic departmen-t of Gen-eral Surgery Hein-rich-Hein-e-Un-iversity

To investigate the relation of two different mutations to the outcome of partial external biliary diversion (PEBD) in severe bile salt export pump (BSEP) deficiency. METHODSMutations in the gene encoding BSEP leading to severe BSEP deficiency in two unrelated patients were identified by genomic sequencing. Native liver biopsies and transiently transfected human embryonic kidney (HEK) 293 cells expressing either wild-type or mutated BSEP were subjected to immunofluorescence analysis to assess BSEP transporter localization. Bile acid profiles of patient and control bile samples were generated by ultra-performance liquid chromatography-tandem mass spectrometry. Wild-type and mutant BSEP transport of [3H]-labeled taurocholate (TC) and taurochenodeoxycholate (TCDC) was assessed by vesicular transport assays. RESULTSA girl (at 2 mo) presented with pruritus, jaundice and elevated serum bile salts (BS). PEBD stabilized liver function and prevented liver transplantation. She was heterozygous for the BSEP deletion p.T919del and the nonsense mutation p.R1235X. At the age of 17 years relative amounts of conjugated BS in her bile were normal, while total BS were less than 3% as compared to controls. An unrelated boy (age 1.5 years) presenting with severe pruritus and elevated serum BS was heterozygous for the same nonsense and another missense mutation, p.G1032R. PEBD failed to alleviate pruritus, eventually necessitating liver transplantation. BS concentration in bile was about 5% of controls. BS were mainly unconjugated with an unusual low amount of chenodeoxycholate derivatives (< 5%). The patients’ native liver biopsies showed canalicular BSEP expression. Both BSEP p.T919del and p.G1032R were localized in the plasma membrane in HEK293 cells. In vitro transport assays showed drastic reduction of transport by both mutations. Using purified recombinant BSEP as quantifiable reference, per-molecule transport rates for TC and TCDC were determined to be 3 and 2 BS molecu

关键词： Familial intrahepatic cholestasis type 2 Partial external biliary diversion Bile salt export pump ATP binding cassette transporter Intrahepatic cholestasis

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Review of Obstetrics and Perinatal Outcome of Multiple Pregnancies with Vanishing and Selective Embryo Reduction in an Oocyte Donation Program

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Journal of Reproduction and Contraception 2005年第2期16卷 73-82页

作者： Rodríguez-González M García-Velasco JA Remohí J Pellicer A Serra V Instituto Valenciano de Infertilidad of Castellón Spain Instituto Valenciano de Infertilidad of Madrid. Instituto Valenciano de Infertilidad of Valencia Spain departmen of pediatrics Obstetrics and Gynaecology Valencia University School of Medicine Spain

To check previous findings of the most common complications among pregnancies with vanishing embryo（VE） in another actual study retropective and in group of patiens with selective embryo reduction （SER） Methods We defined vanishing phenomenon as the spontaneous loss of one or more embryos after visualizing heart activity at the first trimester of pregnancy. Selective embryo reduction was performed between 8th-12th pregnancy week, through vaginal punction and aspiration of embryonic mass. Results Vanishing embryo was observed in 86 patients （18.0%）. In 61 patients （70.9%） this phenomenom happened before 9th pregnancy week. The incidence of VE increased with higher number of gestational sacs initially visualized （P〈0.03）. First trimester bleeding was more common among pregnancies with VE than in the control （P〈0.005）. The incidence of pregnancy induced hypertension was lower in pregnancies with VE than in the controls （P〈0.03）. In contrast, preterm spontaneous rupture of membranes was higher, although without statistical significance. Gestational age at delivery, mode of delivery and birth weight was similar in the group of VE and the controls （P=NS）. Conclusion All these informations may be useful in counselling patients on the prognosis and outcome of pregnancies achieved by oocyte donation.

关键词： vanishing embryo spontaneous embryo reduction selective embryo reduction outcome

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先天性Id型糖基化疾病:临床表型、分子学检验、产前诊断和胎儿蛋白糖基化作用

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世界核心医学期刊文摘（儿科学分册） 2006年第1期2卷 56-56页

作者： Denecke J. Kranz C. Von Kleist-Retzow J.Ch. 王经纬 departmen t of pediatrics Albert-Schweitzer-Str. 33 48149MnsterGermany Dr.

Congenital disorder of glycosylation type Id is an inherited glycosylation dis order based on a defect of the first mannosyltransferase involved in N-glycan b iosynthesis inside the endoplasmic reticulum. Only one patient with this disease has been described until now. In this article, a second patient and an aflected fetus are described. The patient showed abnormal glycosylation of several plasm a proteins as demonstrated by isoelectric focusing and Western blot. Lipid-link ed oligosaccharides in the endoplasmic reticulum, reflecting early N-glycan ass embly, revealed an accumulation of immature Man5GlcNAc2-glycans in fibroblasts of the patient. Chorion cells of the affected fetus showed the same characterist ic lipid-linked oligosaccharides pattern. However, the fetus had a normal glyco sylation of several plasma proteins. Some fetal glycoproteins are known to be de rived from the mother, but even glycoproteins that do not cross the placenta wer e normally glycosylated in the affected fetus. Maternal or placental factors tha t partially compensate for the glycosylation defect in the fetal stage must be p roposed and may be relevant for the therapy of these disorders in the future.

关键词：产前诊断 Id 分子学临床表型绒毛膜细胞脂类甘露糖基转移酶母体因素成纤维细胞生物合成

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