|
|
|
|
| LEADER |
01000naa a22002652 4500 |
| 001 |
NLM233591966 |
| 003 |
DE-627 |
| 005 |
20231224095434.0 |
| 007 |
tu |
| 008 |
231224s2013 xx ||||| 00| ||chi c |
| 028 |
5 |
2 |
|a pubmed24n0778.xml
|
| 035 |
|
|
|a (DE-627)NLM233591966
|
| 035 |
|
|
|a (NLM)24330989
|
| 040 |
|
|
|a DE-627
|b ger
|c DE-627
|e rakwb
|
| 041 |
|
|
|a chi
|
| 100 |
1 |
|
|a Zhang, Jiang-wei
|e verfasserin
|4 aut
|
| 245 |
1 |
0 |
|a Gene analysis and literature review of autosomal recessive polycystic kidney disease
|
| 264 |
|
1 |
|c 2013
|
| 336 |
|
|
|a Text
|b txt
|2 rdacontent
|
| 337 |
|
|
|a ohne Hilfsmittel zu benutzen
|b n
|2 rdamedia
|
| 338 |
|
|
|a Band
|b nc
|2 rdacarrier
|
| 500 |
|
|
|a Date Completed 04.09.2014
|
| 500 |
|
|
|a Date Revised 28.11.2016
|
| 500 |
|
|
|a published: Print
|
| 500 |
|
|
|a Citation Status MEDLINE
|
| 520 |
|
|
|a OBJECTIVE: The purpose of this study was to investigate the clinical and genetic characteristics of autosomal recessive polycystic kidney disease
|
| 520 |
|
|
|a METHOD: Targeted sequencing was used on a children who was accurately diagnosed as autosomal recessive polycystic kidney disease in Peking Union Medical College Hospital to analyze the major clinical manifestations of the disease. An analysis of the PKHD1 genes was made on the patient, and then verified by polymerase chain reaction (PCR). And the related literature was reviewed also
|
| 520 |
|
|
|a RESULT: The patient was a boy, 2 years and 3 months old, and had abdominal distention for about one year. The abdominal ultrasound suggested diffuse liver lesions, mild intrahepatic bile duct dilatation, structure disturbance of both kidneys, appearance of multiple strong echo. The child was clinically highly suspected of polycystic kidney disease. Targeted sequencing showed two mutations in exon 32 and exon 50 of PKHD1 gene, respectively, c.4274T > G, leading to p.Leu1425Arg, c.7973T > A, leading to p.Leu2658Ter. Verified by PCR, the father has one mutation of c.4274T > G
|
| 520 |
|
|
|a CONCLUSION: The clinical manifestations of autosomal recessive polycystic kidney disease are multiple renal cyst, cyst of liver and liver fibrosis, intrahepatic bile duct dilatation. Two mutations (c.4274T > G, c.7973T > A) in PKHD1 gene may be pathogenic
|
| 650 |
|
4 |
|a Case Reports
|
| 650 |
|
4 |
|a Journal Article
|
| 650 |
|
4 |
|a Research Support, Non-U.S. Gov't
|
| 650 |
|
4 |
|a Review
|
| 650 |
|
7 |
|a PKHD1 protein, human
|2 NLM
|
| 650 |
|
7 |
|a Receptors, Cell Surface
|2 NLM
|
| 700 |
1 |
|
|a Wang, Chen
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Wang, Chang-yan
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Qiu, Zheng-qing
|e verfasserin
|4 aut
|
| 773 |
0 |
8 |
|i Enthalten in
|t Zhonghua er ke za zhi = Chinese journal of pediatrics
|d 1960
|g 51(2013), 9 vom: 18. Sept., Seite 684-7
|w (DE-627)NLM136249191
|x 0578-1310
|7 nnns
|
| 773 |
1 |
8 |
|g volume:51
|g year:2013
|g number:9
|g day:18
|g month:09
|g pages:684-7
|
| 912 |
|
|
|a GBV_USEFLAG_A
|
| 912 |
|
|
|a SYSFLAG_A
|
| 912 |
|
|
|a GBV_NLM
|
| 912 |
|
|
|a GBV_ILN_11
|
| 912 |
|
|
|a GBV_ILN_20
|
| 912 |
|
|
|a GBV_ILN_22
|
| 912 |
|
|
|a GBV_ILN_24
|
| 912 |
|
|
|a GBV_ILN_31
|
| 912 |
|
|
|a GBV_ILN_39
|
| 912 |
|
|
|a GBV_ILN_40
|
| 912 |
|
|
|a GBV_ILN_50
|
| 912 |
|
|
|a GBV_ILN_61
|
| 912 |
|
|
|a GBV_ILN_65
|
| 912 |
|
|
|a GBV_ILN_69
|
| 912 |
|
|
|a GBV_ILN_70
|
| 912 |
|
|
|a GBV_ILN_72
|
| 912 |
|
|
|a GBV_ILN_120
|
| 912 |
|
|
|a GBV_ILN_130
|
| 912 |
|
|
|a GBV_ILN_227
|
| 912 |
|
|
|a GBV_ILN_244
|
| 912 |
|
|
|a GBV_ILN_285
|
| 912 |
|
|
|a GBV_ILN_294
|
| 912 |
|
|
|a GBV_ILN_350
|
| 912 |
|
|
|a GBV_ILN_665
|
| 912 |
|
|
|a GBV_ILN_813
|
| 951 |
|
|
|a AR
|
| 952 |
|
|
|d 51
|j 2013
|e 9
|b 18
|c 09
|h 684-7
|