Par Antoine Blanchard et Mélodie Faury pour le collectif Révoluscience Billet publié simultanément sur Sciences et Démocratie et Knowtex Blog Les "lieux" des réactions   Plusieurs dispositifs avaient été mis en place pour recueillir les réactions des lecteurs, d'abord sur le blog du manifeste où les commentaires étaient possibles sous chaque proposition, puis sur un site de travail collaboratif permettant d’en annoter le texte, paragraphe par paragraphe. On alliait ainsi critique d'un côté et..

Li, Fucheng

Yue, Zhihui

Xu, Tingting

Chen, Minghui

Zhong, Liangying

Liu, Ting

Jing, Xiangyi

Deng, Jia

Hu, Bin

Liu, Yuling

Wang, Haiyan

Lai, Kar N

Sun, Liangzhong

Liu, Jinsong

Maxwell, Patrick

Wang, Yiming

OBJECTIVE: To characterize the phenotypes of Dent disease in Chinese children and their heterozygous mothers and to establish genetic diagnoses. STUDY DESIGN: Using a modified protocol, we screened 1288 individuals with proteinuria. A diagnosis of Dent disease was established in 19 boys from 16 families by the presence of loss of function/deleterious mutations in CLCN5 or OCRL1. We also analyzed 16 available patients' mothers and examined their pregnancy records. RESULTS: We detected 14 loss of function/deleterious mutations of CLCN5 in 15 boys and 2 mutations of OCRL1 in 4 boys. Of the patients, 16 of 19 had been wrongly diagnosed with other diseases and 11 of 19 had incorrect or unnecessary treatment. None of the patients, but 6 of 14 mothers, had nephrocalcinosis or nephrolithiasis at diagnosis. Of the patients, 8 of 14 with Dent disease 1 were large for gestational age (>90th percentile); 8 of 15 (53.3%) had rickets. We also present predicted structural changes for 4 mutant proteins. CONCLUSIONS: Pediatric Dent disease often is misdiagnosed; genetic testing achieves a correct diagnosis. Nephrocalcinosis or nephrolithiasis may not be sensitive diagnostic criteria. We identified 10 novel mutations in CLCN5 and OCRL1. The possibility that altered CLCN5 function could affect fetal growth and a possible link between a high rate of rickets and low calcium intake are discussed

Maxwell, Patrick H

Apollo (Cambridge)

Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.

Mélodie Faury

OpenEdition

Retour sur le manifeste Révoluscience – Les réactions – 1/2

https://www.repository.cam.ac.uk/bitstream/handle/1810/290925/Dent%20disease.pdf?sequence=1&isAllowed=y

Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.

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Apollo (Cambridge)

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