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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 | Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation显示文摘 | Malina M Cinek O Janda J | | 0，，10： | 1 |
| 3 | High prevalence of human enterovirus a infections in natural circulation of human enteroviruses显示文摘 | Wits E Palacios G Cinek O | | 0，，： | 1 |
| 4 | Partial remission withcyclosporine A in a patient with nephrotic syndrome dueto NPHS2 mutation显示文摘 | Malina M Cinek O Janda J | 2009 | Pediatr Nephrol2009，24，10： | 1 |
| 5 | The nature of large noncovalent complexes containing glycosyl-phosphatidy linositolanchored membrane glycoproteins and protein tyrosine kinases显示文摘 | Cinek T Horejs IV | 1992 | J Immunol1992，149，7： | 1 |
| 6 | Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening:identification of two novel PDS/SLC26A4 mutations显示文摘 | Banghova K Al Taji E Cinek O | | 0，，07： | 1 |
| 7 | High prevalence of human entcrovirus a infections in natural circulation of human enterovir- uses显示文摘 | Witso E Palacios G Cinek O | 2006 | J Clin Microbiol2006，44，11： | 1 |
| 8 | Genetic associa-tion of type 1 diabetes in an Azerbaijanian population:the HLA-DRB1*04,the insulin gene,and CTLA4显示文摘 | Ahmedov G Ahmedova L Pavlina S Cinek O | 2006 | Pediatr Diabetes2006，7，2： | 1 |
| 9 | High prevalence of human entero-virus A infections in natural circulation of human enterovirus 显示文摘 | Witsth E Palacios G Cinek O | 2006 | J Clin Microbiol2006，44，11： | 1 |
| 10 | Widespread clone of Burkholderia cenocepacia in cystic fibrosis patients in the Czech Republic显示文摘 | DREVINEK P VOSAHLIKOVA S CINEK O | 2005 | Med Microbiol2005，54，7： | 1 |
| 11 | The nature of large noncovalent complexes containing glycosyl-phosphatidylinositol-anchored membrane glycoproteins and protein tyrosine kinases 显示文摘 | Cinek T Horejsi V | 1992 | Immunol1992，149，7： | 1 |
| 12 | High prevalence of human en- terovirus a infections in natural circulation of human enterviruses 显示文摘 | Wits E Palaeios G Cinek O | 2006 | J Clin Microbiol2006，，： | 1 |
| 13 | High prevalence of human enterovirus a infections in natural circulation of human enterovruses显示文摘 | Wits(o)E Palacios G Cinek O | | 0，，11： | 1 |
| 14 | High prevalence of hu- man enterovirus a infections in natural circulation of human enterviruses显示文摘 | Wits E Palacios G Cinek O | 2006 | J Clin Microbiol2006，44，11： | 1 |
| 15 | Exogenous glycosylphosphatidylinositol-anchored CD59 associates with kinases in membrane clusters on U937 cells and becomes Ca (2+)-signaling competent 显示文摘 | van den Berg CW Cinek T Hallett MB | 1995 | Cell Biol1995，131，3： | 1 |
| 16 | Multiple probing of an immunoblot membrane using a non-block technique: advantages in speed and sensitivity 显示文摘 | SADRA A CINEK T IMBODEN J | 2000 | Anal Biochem2000，278，2： | 1 |
| 17 | The nature of large noncovalent complexes containing glycosyl-phosphatidy linositol- anchored membrane glycoproteins and protein tyrosine kinases显示文摘 | Cinek T Horejs i V | 1992 | J Immunol1992，149，7： | 1 |
| 18 | The nature of large noncovalent complexes containing glycosyl-phosphatidylinositol-anchored membrane glycoproteins and protein Tyrosine kinases 显示文摘 | HOREJSI V | 1992 | J Immunol1992，149，7： | 1 |
| 19 | Longitudinal observation of enterovirus and adenovirus in stool samples from Norwegian infants with the highest genetic risk of type 1 diabetes 显示文摘 | Cinek O Witso E Jeansson S | 2006 | J Clin Virol2006，35，： | 1 |
| 20 | Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation显示文摘 | Malina M Cinek O Janda J | | 0，，： | 1 |
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