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 ◽  
...  

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.

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

2019 ◽  
Vol 8 (2) ◽  
Author(s):  
Giulia Garofalo ◽  
Marie Cassart ◽  
Julie Désir ◽  
Dominique Thomas

Abstract Background Prenatal diagnosis of congenital ichthyosis is still a challenge and very few cases of sonographic diagnosis have been described in the literature. Diagnosis by fetal ultrasound is made from the late second trimester and prenatal genetic diagnosis can be possible only if a proband is known. Case presentation We report the case of a prenatal diagnosis of severe non-syndromic ichthyosis in a primigravida woman with no personal or family history for this pathology. Conclusion Our case outlines prenatal sonographic signs suggestive of ichthyosis orienting genetic diagnosis.


2005 ◽  
Vol 37 (9) ◽  
pp. 964-968 ◽  
Author(s):  
Olivier Gribouval ◽  
Marie Gonzales ◽  
Thomas Neuhaus ◽  
Jacqueline Aziza ◽  
Eric Bieth ◽  
...  

2006 ◽  
Vol 28 (4) ◽  
pp. 431-431
Author(s):  
A. Toi ◽  
J. Smith ◽  
S. Keating ◽  
M. Thomas ◽  
G. Ryan ◽  
...  

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