scholarly journals RAS gene mutations linked to autosomal recessive renal tubular dysgenesis

2005 ◽  
Vol 1 (2) ◽  
pp. 65-65
Author(s):  
Rachael Williams
Keyword(s):  
Autosomal Recessive ◽  
Gene Mutations ◽  
Renal Tubular Dysgenesis ◽  
Ras Gene ◽  
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

scholarly journals Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the AGT Gene

Diagnostics ◽  
2019 ◽  
Vol 9 (4) ◽  
pp. 185 ◽  
Author(s):  
Ma ◽  
Chen ◽  
Wu ◽  
Chang ◽  
Chang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Urinary Bladder ◽  
Autosomal Recessive ◽  
Second Trimester ◽  
Normal Kidney ◽  
Renal Tubular Dysgenesis ◽  
Fetal Ultrasound ◽  
Refractory Hypotension ◽  
Renal Tubular ◽  
Agt Gene

Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare and lethal disorder that causes stillbirth or early neonatal death. Most of the reported cases are diagnosed postnatally by a histopathological hallmark of the absence or paucity of differentiated proximal tubules in kidneys. Prenatal diagnosis of ARRTD is challenging because only a few fetal features (e.g., oligohydramnios/anhydramnios, anuria) are associated with this condition. In this study, we report a fetus with ARRTD, which showed anhydramnios and invisible urinary bladder since the second trimester, followed by growth restriction and reversed end diastolic flow in the middle cerebral artery (MCA-REDF). No morphological anomaly was detected on the fetal kidneys during an ultrasound scan. The baby died of refractory hypotension the day after their birth. Genetic analysis of genes that are involved in the renin-angiotensin-aldosterone system (RAAS), which are the known genetic causes of ARRTD, identified a novel, biparental-origin homozygous c.857-619_1269+243delinsTTGCCTTGC mutation in the AGT gene. The mutation is considered as pathogenic because it is cosegregated with ARRTD and detected in other unrelated ARRTD families. Our findings link the fetal ultrasound manifestations to the ARRTD, highlighting clues that are useful for prenatal diagnosis, which warrants confirmatory genotyping of the RAAS genes including oligohydramnios/anhydramnios, anuria (absent filling of a fetal urinary bladder), MCA-REDF, and a morphologically normal kidney.

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 in an Hydropic Fetus with Trisomy 21: A Case Report with Literature Review

2003 ◽  
Vol 6 (6) ◽  
pp. 568-572 ◽  
Author(s):  
Vibha Jain ◽  
Debra Beneck
Keyword(s):  
Trisomy 21 ◽  
Autosomal Recessive ◽  
Relevant Literature ◽  
Autosomal Recessive Inheritance ◽  
Perinatal Period ◽  
Renal Tubules ◽  
Renal Tubular Dysgenesis ◽  
Fetal Hydrops ◽  
Cystic Renal Disease ◽  
Renal Tubular

Renal tubular dysgenesis (RTD) is a rare form of non-cystic renal disease characterized by paucity or absence of proximal renal tubules. Always lethal in the perinatal period, it has been associated with Potter sequence and with other congenital malformations. An autosomal recessive inheritance has been suggested. We present a case of renal tubular dysgenesis associated with fetal hydrops and trisomy 21, with a review of relevant literature.

scholarly journals Autosomal Recessive Renal Tubular Dysgenesis Caused by a Founder Mutation of Angiotensinogen

2020 ◽  
Vol 5 (11) ◽  
pp. 2042-2051
Author(s):  
Min-Hua Tseng ◽  
Shih-Ming Huang ◽  
Jing-Long Huang ◽  
Wen-Lang Fan ◽  
Martin Konrad ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Founder Mutation ◽  
Renal Tubular Dysgenesis ◽  
Renal Tubular
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