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Nephrology. Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail to develop. Unilateral and bilateral renal agenesis in humans, mice and zebra fish has been linked to mutations in the gene GREB1L. [1] It has also been associated with mutations in the genes RET or UPK3A [2] in humans [3] and mice ...
Renal hypoplasia. An ultrasound scan of a hypoplastic right kidney in an adult male. Renal hypoplasia is a congenital abnormality in which one or both of the kidneys are smaller than normal, [5] resulting in a reduced nephron number [1] but with normal morphology. [4]
It can be caused by renal diseases such as bilateral renal agenesis (BRA), atresia of the ureter or urethra causing obstruction of the urinary tract, polycystic or multicystic kidney diseases, renal hypoplasia, amniotic rupture, toxemia, or uteroplacental insufficiency from maternal hypertension.
Newborns with unilateral renal agenesis are usually asymptomatic if the other kidney’s otherwise healthy. Now that that one kidney’s doing all the filtering, though, over time unilateral renal agenesis can lead to hypertrophy, or growth of the kidney, which later in life can increase the risk of hypertension as well as renal failure.
There are two main populations of CAVD; the larger group is associated with cystic fibrosis and occurs because of a mutation in the CFTR gene, [4] [5] while the smaller group (estimated between 10 and 40%) is associated with unilateral renal agenesis (URA). The mutational spectrum of CFTR in the first group differs from that observed in classic ...
Santos–Mateus–Leal syndrome, also known as Hirschsprung's disease-deafness-polydactyly syndrome is a very rare autosomal recessive limb malformation which is characterized by Hirschsprung's disease, feet and hand polydactyly, unilateral renal agenesis, and congenital hearing loss. [2][3] Only 2 cases have been described in medical literature.
Among the anomalies of kidney development are hypoplasia and dysplasia of the kidneys (dysplasia can be unilateral or bilateral), agenesis (absence) of one or both kidneys, polycystic kidney disease, simple renal cysts, perirenal pseudocysts, doubled or tripled renal arteries, malposition of the kidneys, horseshoe kidney and nephroblastoma. [184]
Uterus didelphys (from Ancient Greek di- 'two' and delphus 'womb'; sometimes also uterus didelphis) represents a uterine malformation where the uterus is present as a paired organ when the embryogenetic fusion of the Müllerian ducts fails to occur. As a result, there is a double uterus with two separate cervices, and possibly a double vagina ...