[Mutations in genes in the renin-angiotensin system and renal tubular dysgenesis].
نویسندگان
چکیده
Montréal. Il a pour mission la promotion et la valorisation de la recherche. Érudit offre des services d'édition numérique de documents scientifiques depuis 1998. Pour communiquer avec les responsables d'Érudit : [email protected] Article « Mutations des gènes du système rénine-angiotensine et dysgénésie tubulaire rénale / Mutations in genes in the renin-angiotensin system and renal tubular dysgenesis » Note : les règles d'écriture des références bibliographiques peuvent varier selon les différents domaines du savoir. Ce document est protégé par la loi sur le droit d'auteur. L'utilisation des services d'Érudit (y compris la reproduction) est assujettie à sa politique d'utilisation que vous pouvez consulter à l'URI
منابع مشابه
Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking.
Renal tubular dysgenesis (RTD) is a recessive autosomal disease characterized by persistent fetal anuria and perinatal death. During the systematic screening of mutations of the different genes of the renin-angiotensin system associated with RTD, two missense mutations in the renin gene were previously identified, the first affects one of the two catalytic aspartates (D38N) of renin, and the se...
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Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disease affecting renal development before birth. RTD is manifested by anuria and severe hypotension resulting in oligohydramnios and birth defects known as Potter's syndrome. Homozygous or compound heterozygous mutations in genes encoding components of the renin-angiotensin system (ACE, AGT, AGTR1 and REN) have been reported t...
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Unilateral ureteral obstruction (UUO) is a clinical scenario that leads to obstructive nephropathy. UUO alters the expression of many mediators in the ipsilateral kidney. Renin-angiotensin system (RAS) is involved in UUO. Angiotensin II (Ang II) and angiotensin 1-7 (Ang 1-7) as the main arms of RAS influence kidney function which may alter by UUO. Ang II via Ang II receptor subtypes I (AT1R) ...
متن کاملSurvival over 2 years of autosomal-recessive renal tubular dysgenesis
Autosomal-recessive renal tubular dysgenesis (AR-RTD) is a rare disorder caused by a genetic defect in the renin-angiotensin system. Although AR-RTD has typically been known as a lethal disease due to refractory hypotension and renal failure immediately after birth, few cases have reported survival of the neonatal period. We report here an additional case of AR-RTD, who had novel ACE mutations ...
متن کاملRenal tubular dysgenesis: evidence of abnormality in the renin-angiotensin system.
Renal tubular dysgenesis is an autosomal recessive condition characterized by short, abnormally developed cortical tubules that lack proximal differentiation. Despite the lack of normal proximal tubules, the major site of water resorption in the kidney, the principal clinical manifestations are caused by fetal and neonatal oliguria. The kidneys in three cases of neonatal renal tubular dysgenesi...
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ورودعنوان ژورنال:
- Medecine sciences : M/S
دوره 22 3 شماره
صفحات -
تاریخ انتشار 2006