A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin–angiotensin pathway, without renal tubular dysgenesis

2020 ◽  
Vol 182 (10) ◽  
pp. 2284-2290
Author(s):  
Allison A. Dilliott ◽  
Jian Wang ◽  
Emma Brown ◽  
Gagandeep Singh ◽  
Michael J. Shkrum ◽  
...  
Keyword(s):  
Renal Tubular Dysgenesis ◽  
Renin Angiotensin ◽  
Homozygous Variant ◽  
Renal Tubular

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

2005 ◽  
Vol 37 (9) ◽  
pp. 964-968 ◽  
Author(s):  
Olivier Gribouval ◽  
Marie Gonzales ◽  
Thomas Neuhaus ◽  
Jacqueline Aziza ◽  
Eric Bieth ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Renin Angiotensin System ◽  
Renal Tubular Dysgenesis ◽  
Angiotensin System ◽  
Renin Angiotensin ◽  
Renal Tubular

Renal tubular dysgenesis

2015 ◽  
Author(s):  
Michiel F. Schreuder
Keyword(s):  
Renin Angiotensin System ◽  
Angiotensin Converting Enzyme Inhibitors ◽  
Genetic Mutation ◽  
Recessive Trait ◽  
Angiotensin Ii Receptor ◽  
Renal Tubular Dysgenesis ◽  
Converting Enzyme Inhibitors ◽  
Angiotensin System ◽  
Renin Angiotensin ◽  
Renal Tubular

Renal tubular dysgenesis involves the absence or incomplete differentiation of proximal tubular nephron segments. Due to the lack of a patent nephron, it is characterized by (fetal) anuria and subsequent oligohydramnios, pulmonary hypoplasia, premature birth with severe and refractory arterial hypotension, and fetal or neonatal death. The main cause for renal tubular dysgenesis is a genetic mutation in the renin–angiotensin system, which has shown an autosomal recessive trait. Maternal use of angiotensin-converting enzyme inhibitors or angiotensin II receptor blockers during pregnancy can have similar blocking effects on the fetal renin–angiotensin system, which may lead to renal tubular dysgenesis. Even though there is no actual renal function, ultrasound usually shows kidneys of normal size and architecture with an intact corticomedullary differentiation. Most patients with renal tubular dysgenesis do not survive beyond the neonatal period. A few patients have been described to survive with respiratory support, vasopressor treatment, and dialysis.

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis

2011 ◽  
Vol 33 (2) ◽  
pp. 316-326 ◽  
Author(s):  
Olivier Gribouval ◽  
Vincent Morinière ◽  
Audrey Pawtowski ◽  
Christelle Arrondel ◽  
Satu-Leena Sallinen ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Renin Angiotensin System ◽  
Renal Tubular Dysgenesis ◽  
Angiotensin System ◽  
Renin Angiotensin ◽  
Renal Tubular

scholarly journals Survival over 2 years of autosomal-recessive renal tubular dysgenesis

2012 ◽  
Vol 5 (1) ◽  
pp. 56-58 ◽  
Author(s):  
S. Y. Kim ◽  
H. G. Kang ◽  
E. K. Kim ◽  
J. H. Choi ◽  
Y. Choi ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Renal Tubular Dysgenesis ◽  
Renal Tubular
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