Abstract
Thrombocytopenia-absent radius syndrome: prenatal diagnosis of a rare syndrome.
Highlights
The pancake kidney malformation results from complete medial fusion of the metanephric blastema at an early stage of embryonic development and is characterized by a single, flat, nonreniform mass, in a medial position within the pelvic cavity or at the level of the aortic bifurcation
Pancake kidney is asymptomatic but can be accompanied by nephrolithiasis, hydronephrosis, and vesicoureteral reflux resulting in recurrent urinary infections, all of which are attributable to the anomalous rotation of the collecting system and the short ureters, which are prone to stasis and obstruction, as well as by renovascular hypertension, ureteropelvic junction stenosis, anomalous implantation of the renal pelvis, and polycystic kidney disease[1,4]
A little more than 20 cases of pancake kidney have been described in the literature, and a single ureter was reported in fewer than 10 of those cases[6,7]
Summary
The pancake kidney malformation results from complete medial fusion of the metanephric blastema at an early stage of embryonic development and is characterized by a single, flat, nonreniform mass, in a medial position within the pelvic cavity or at the level of the aortic bifurcation. Pancake kidney is asymptomatic but can be accompanied by nephrolithiasis, hydronephrosis, and vesicoureteral reflux resulting in recurrent urinary infections, all of which are attributable to the anomalous rotation of the collecting system and the short ureters, which are prone to stasis and obstruction, as well as by renovascular hypertension, ureteropelvic junction stenosis, anomalous implantation of the renal pelvis, and polycystic kidney disease[1,4]. A little more than 20 cases of pancake kidney have been described in the literature, and a single ureter was reported in fewer than 10 of those cases[6,7].
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