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| 1 | Hepatic phenotypes of HNF1B gene mutations:A case of neonatal cholestasis requiring portoenterostomy and literature review显示文摘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;-2.02standard deviations(SD)and birth length 45 cm;-2.40 SD at the 38th gestational week].She developed neonatal cholestasis due to biliary atresia and required surgical intervention(portoenterostomy)when 32-d old.Following the operation,icterus resolved,but laboratory signs of liver dysfunction persisted.She had hyperechogenic kidneys prenatally with bilateral renal cysts and pancreatic hypoplasia postnatally that led to the diagnosis of an HNF1B deletion.This represents the most severe hepatic phenotype of an HNF1B variant recognized thus far.A review of 12 published cases with hepatic phenotypes of HNF1B defects allowed us to distinguish three severity levels,ranging from neonatal cholestasis through adult-onset cholestasis to noncholestatic liver impairment,all of these are associated with congenital renal cysts and mostly with diabetes later in life.We conclude that to detect HNF1B variants,neonates with cholestasis should be checked for the presence of renal cysts,with special focus on those who are born small for their gestational age.Additionally,patients with diabetes and renal cysts at any age who develop cholestasis and/or exocrine pancreatic insufficiency should be tested for HNF1B variants as the true etiological factor of all disease components.Further observations are needed to confirm the potential reversibility of cholestasis in infancy in HNF1B mutation/deletion carriers. | Radana Kotalova Petra Dusatkova Ondrej Cinek Lenka Dusatkova Tomas Dedic Tomas Seeman Jan Lebl Stepanka Pruhova | 2015 | World Journal of Gastroenterology2015，21，8： | 7 |
| 2 | Genetic epidemiology of MODY in the Czech republic:new mutations in the MODY genes HNF-4-1,GCK,and HNF-1显示文摘 | Pruhova S Lebl J | 2003 | Diabetologia2003，46，： | 1 |
| 3 | Polychlorinated Biphenyl Ethers in Human Adipose Tissue (Pary 2)显示文摘 | Williams D T Kennedy B Leble G L | 1991 | Chemosphere1991，23，： | 1 |
| 4 | Management of thoracolumbar spine fractures显示文摘 | Wood KB Li W Lebl DS | 2014 | Spine J2014，14，1： | 1 |
| 5 | Lumbar degenerative disc disease:current and future concepts of diagnosis and management显示文摘 | Taher F Essig D Lebl DR | 2012 | Adv Orthop2012，，97： | 1 |
| 6 | Management of thoracolumbar spine fractures显示文摘 | Wood KB Li W Lebl DS | 2014 | Spine J2014，14，1： | 1 |
| 7 | A Convenient Preparation of Monosubstituted N, N'-di ( Boc)-Protected Gmmidines 显示文摘 | DRAKE B PATEK M LEBL M | 1994 | Synthesis1994，，6： | 1 |
| 8 | Sex hormone - binding globulin as a marker of the effect of hormonal treatment in Tumer's syndrome 显示文摘 | HampI R Snajderova M Lebl J | 2001 | Endocr Regul2001，35，1： | 1 |
| 9 | Management of thoracolumbar spine fractures显示文摘 | Wood KB Li W Lebl DR | 2014 | Spine J2014，14，2014： | 1 |
| 10 | Management of thoracolum- bar spine fractures 显示文摘 | Wood KB Li W Lebl DR | 2014 | Spine J2014，14，1： | 1 |
| 11 | Stimulation of Paracrine Pathways With Growth Factors Enhances Embryonic Stem Cell Engraftment and Host-Specific Differentiation in the Heart After Ischemic Myocardial Injury显示文摘 | Theo Kofidis Jorg L. de Bruin Toshiyuki Yamane Masashi Tanaka Darren R. Lebl Rutger-Jan Swijnenburg Irving L. Weissman Robert C. Robbins | 2005 | Circulation2005，，19： | 1 |
| 12 | Anterior surgical treat- ment of cervical spondylotic myelopathy:review article 显示文摘 | Quinn JC Kiely PD Lebl DR | 2015 | HSS J2015，11，1： | 1 |
| 13 | Anterior surgical treatment of cer- vical spondylotic myelopathy : review article 显示文摘 | Quinn JC Kiely PD Lebl DR | 2015 | HSS J2015，11，1： | 1 |
| 14 | Management of thoracolumbar spine fractures显示文摘 | Wood KB Li W Lebl DS | 2014 | Spine J2014，14，1： | 1 |
| 15 | Anterior surgical treatment of cervical spondylotic myelopathy:review arti- cle 显示文摘 | Quinn JC Kiely PD Lebl DR | 2015 | HSS J2015，11，1： | 1 |
| 16 | Cervical spondylotic myelopathy:pathophysiology,clinical presentation,and treatment显示文摘 | Lebl DR Hughes A Cammisa FP Jr | 2011 | HSS J2011，7，2： | 1 |
| 17 | 3rd order spectral problems:Reductions and Darboux transformations显示文摘 | LEBLE S B USTINOV N V | 1994 | Inverse Problems1994，10，3： | 1 |
| 18 | Management of thoracolumbar spite fractures 显示文摘 | Wood KB Li W Lebl DR | 2014 | Spine J2014，4，： | 1 |
| 19 | Anterior surgical treatment of cervical spondylofic myelopathy: review article 显示文摘 | Quinn JC Kiely PD Lebl DR | 2015 | The muscu- loskeletaljoumal of Hospital for Special Surgery2015，11，1： | 1 |
| 20 | Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects 显示文摘 | Lebl J VosOhlo J Pfaeffle RW et ol | 2005 | Eur J Endocrinol2005，153，3： | 1 |
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