scholarly journals OP02.35: Renal tubular dysgenesis: an unusual but potentially diagnosable cause of second-trimester oligohydramnios

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

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

Inherited renal tubular dysgenesis may not be universally fatal

2010 ◽  
Vol 25 (12) ◽  
pp. 2531-2534 ◽  
Author(s):  
Ruth Schreiber ◽  
Marie-Claire Gubler ◽  
Olivier Gribouval ◽  
Hanna Shalev ◽  
Daniel Landau
Keyword(s):  
Renal Tubular Dysgenesis ◽  
Renal Tubular

scholarly journals Renal Tubular Dysgenesis in a Case of Fetus Acardius Amorphus

2019 ◽  
Vol 2019 ◽  
pp. 1-11
Author(s):  
C. Thoeni ◽  
K. Holzer ◽  
J. Leichsenring ◽  
C. Porcel ◽  
B. K. Straub ◽  
...  
Keyword(s):  
Blood Flow ◽  
Smooth Muscle Actin ◽  
Extramedullary Hematopoiesis ◽  
Renal Tubular Dysgenesis ◽  
Internal Organs ◽  
Multiple Gestations ◽  
Different Types ◽  
Inner Organs ◽  
Renal Tubular ◽  
Umbilical Arteries

Fetus acardius amorphus is a rare congenital malformation characterized by the lack of a functional heart, the presence of a bivascular umbilical cord, as well as a developed and organized skeletal system and partially organized inner organs. Fetus acardii mostly occur in multiple gestations. The pathogenesis of this entity is not clarified yet. It has been hypothesized that, although formation of anastomosing vessels between the co-twin and the anomalous embryo as well as reverse directed blood flow within the umbilical arteries of the weaker twin may allow sufficient blood flow to form rudimentary internal organs, it is insufficient to develop a fully functional heart. We had a case of fetus acardius amorphus, where we performed autopsy as well as routine histology assessment to identify different types of tissues. We showed that our fetus acardius amorphus demonstrated histomorphological features of renal tubular dysgenesis, confirmed by lack of proximal tubules, extramedullary hematopoiesis and increased number of smooth muscle actin positive vessels. This is a novel finding and has not been reported previously.

Familial Renal Tubular Dysgenesis: A Disorder Not Isolated to Proximal Convoluted Tubules

1995 ◽  
Vol 15 (6) ◽  
pp. 915-922 ◽  
Author(s):  
I. Ariel ◽  
T. R. Wells ◽  
B. H. Landing ◽  
M. Sagi ◽  
B. Bar-Oz ◽  
...  
Keyword(s):  
Renal Tubular Dysgenesis ◽  
Renal Tubular ◽  
Convoluted Tubules ◽  
Proximal Convoluted Tubules
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