scholarly journals P04.03: In utero diagnosis of autosomal dominant polycystic kidney disease

2019 ◽  
Vol 54 (S1) ◽  
pp. 165-165
Author(s):  
M. Cal ◽  
I. Godinho ◽  
M. Soeiro e Sá ◽  
M. Cunha ◽  
R. Carvalho
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
In Utero ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Rapamycin: eine neue Therapieoption bei autosomal dominanter polyzystischer Nierenerkrankung (ADPKD)?

Praxis ◽  
2009 ◽  
Vol 98 (25) ◽  
pp. 1511-1516
Author(s):  
Serra ◽  
Wüthrich
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Mammalian Target Of Rapamycin ◽  
Mtor Inhibitors ◽  
In Utero ◽  
Polycystic Kidney ◽  
Kausale Therapie ◽  
Polyzystische Nierenerkrankung ◽  
Autosomal Dominant Polycystic Kidney

Die autosomal dominante polyzystische Nierenerkrankung (autosomal dominant polycystic kidney disease, ADPKD) ist charakterisiert durch eine massive Vergrösserung beider Nieren, bedingt durch unzählige Zysten. Die Zystenbildung beginnt bereits in utero und das kontinuierliche Zystenwachstum führt zur Kompression und Zerstörung des nicht-zystischen Nierenparenchyms, sodass schliesslich ein Nierenersatz in der 5. bis 6. Lebensdekade notwendig wird. Bisher gab es keine kausale Therapie, welche das Fortschreiten der Krankheiten aufhält. Tierexperimentelle Daten zeigen, dass die medikamentöse Inhibition eines zentralen Regulators der Zellproliferation, dem so genannten «mammalian target of rapamycin» (mTOR), den Kranheitsverlauf der ADPKD verlangsamen kann. Die vorliegende Übersicht vermittelt einen Einblick in die Erkrankung und in die neue therapeutische Möglichkeit des mTOR Inhibitors Sirolimus, welcher zurzeit in klinischen Studien getestet wird.

scholarly journals A Rare Case of Autosomal Dominant Polycystic Kidney Disease Presenting in utero

2011 ◽  
Vol 3 (1) ◽  
pp. 44-45
Author(s):  
Hema Dhumale ◽  
Yeshita Pujar ◽  
Bhavana Sherigar ◽  
Babasaheb Raosaheb Desai ◽  
Geeta Durdi ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Mutant Gene ◽  
In Utero ◽  
Polycystic Kidney ◽  
Adult Polycystic Kidney Disease ◽  
Rare Presentation ◽  
Autosomal Dominant Polycystic Kidney

ABSTRACT Autosomal dominant polycystic kidney disease (ADPKD) is the most widespread cause of genetic nephropathy. Only 25% of patients are symptomatic.1 One in 1,000 people carries the autosomal dominant polycystic kidney disease mutant gene. Autosomal dominant polycystic kidney disease is usually asymptomatic until the third or fourth decade of life, although histological evidence of the disease is likely to be present from intrauterine life. Rarely, however, kidneys that are anatomically similar may cause death in infancy or early childhood, and the condition has been designated as “adult variety occurring in infancy”.2 In ADPKD, cysts develop only later in adulthood yet exceptionally cysts may be encountered in utero. We report a rare case of ADPKD, which was diagnosed by ultrasonography in utero as infantile polycystic kidney disease due to the presence of bilateral enlarged hyperechogenic kidneys with oligohydramnios. Pregnancy was terminated and autopsy revealed it to be an adult polycystic kidney disease. This case is reported due to its rare presentation in utero.

scholarly journals Autosomal dominant polycystic kidney disease diagnosed in utero. Review

2016 ◽  
Vol 87 (8) ◽  
pp. 605-608
Author(s):  
Magdalena Nowak ◽  
Hubert Huras ◽  
Marcin Wiecheć ◽  
Robert Jach ◽  
Małgorzata Radoń-Pokracka ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
In Utero ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Prognosis of autosomal dominant polycystic kidney disease diagnosed in utero or at birth

2007 ◽  
Vol 22 (3) ◽  
pp. 380-388 ◽  
Author(s):  
Olivia Boyer ◽  
Marie-France Gagnadoux ◽  
Geneviève Guest ◽  
Nathalie Biebuyck ◽  
Marina Charbit ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
In Utero ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

scholarly journals Diagnosis of autosomal dominant polycystic kidney disease in utero and in the young infant.

1987 ◽  
Vol 6 (5) ◽  
pp. 249-255 ◽  
Author(s):  
D H Pretorius ◽  
M E Lee ◽  
M L Manco-Johnson ◽  
G R Weingast ◽  
A B Sedman ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Young Infant ◽  
In Utero ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney
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