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DE-627 |
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20250218095511.0 |
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tu |
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231224s2015 xx ||||| 00| ||chi c |
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|a (NLM)25876686
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|a DE-627
|b ger
|c DE-627
|e rakwb
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|a chi
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1 |
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|a Sun, Lei
|e verfasserin
|4 aut
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1 |
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|a Features of clinical phenotype and genotype in Alport syndrome
|b a monocentric study
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|c 2015
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|a Text
|b txt
|2 rdacontent
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|a ohne Hilfsmittel zu benutzen
|b n
|2 rdamedia
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|a Band
|b nc
|2 rdacarrier
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|a Date Completed 17.05.2015
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|a Date Revised 02.12.2018
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|a published: Print
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|a Citation Status MEDLINE
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|a OBJECTIVE: To analyze the clinical features and gene mutation of Chinese children with Alport syndrome(AS)
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|a METHOD: From May 2011 to May 2014, clinical and pathological information gathered from 25 patients was retrospectively analyzed. COL4A5, COL4A4 and COL4A3 genes were analyzed using next-generation sequencing in these patients, and gene mutations of related family members were identified by Sanger method
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|a RESULT: Of these 25 cases, 19(76%) had X-linked Alport syndromes (XL-AS), 6 had autosomal recessive Alport syndromes (AR-AS). Twenty five patients had an onset of hematuria and proteinuria and in 8 cases the disease was induced by upper respiratory tract infections. Hearing loss was present in 2 of 25 (8%) cases and ocular lesions in 1 of 25 (4%). Renal pathology showed that 16 of them had minimal change disease (MCD), 8 mesangial proliferative glomerulonephritis (MsPNG), 1 focal segmental glomerulo-sclerosis (FSGS). Extensive lamination and split of glomerular basement membrane (GBM) dense layers were found in 2 (8%) of 25 patients. Twenty one of 25 patients (84%) showed abnormal renal α-chain distribution. COL4A5, COL4A4 and COL4A3 genes of 25 patients (23 families) were analyzed and 24 pathogenic mutations were identified: 18 in COL4A5, 1 in COL4A3 and 5 in COL4A4. It was observed that 13 patients inherited the mutation from the mother, 3 patients inherited from the father, 2 patients inherited 1 mutation from the mother and another mutation from the father, and 7 patients carried the novel mutations
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|a CONCLUSION: XL is the main inherited type in AS. Most of patients showed MCD and MsPNG in renal biopsy. This research examined 24 mutations and 16 mutations were not reported previously
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|a Journal Article
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1 |
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|a Kuang, Xinyu
|e verfasserin
|4 aut
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1 |
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|a Hao, Sheng
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Wang, Ping
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Niu, Xiaoling
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Zhu, Guanghua
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Zhou, Junmei
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Huang, Wenyan
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Zhonghua er ke za zhi = Chinese journal of pediatrics
|d 1960
|g 53(2015), 2 vom: 14. Feb., Seite 114-8
|w (DE-627)NLM136249191
|x 0578-1310
|7 nnas
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| 773 |
1 |
8 |
|g volume:53
|g year:2015
|g number:2
|g day:14
|g month:02
|g pages:114-8
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|d 53
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