Complete agenesis of urinary bladder is an extremely rare anomaly with only a few live cases reported so far. In most of the instances death occurs early as it may be incompatible with life. Here we report a case of adolescent female with urinary bladder and unilateral renal agenesis, who presented with a rather unusual presentation of incontinence, for a computed tomography (CT) examination. O...

Successful living-related kidney transplantation in hereditary renal hypouricaemia Sir, Hereditary renal hypouricaemia (MIM: 220150) is a syndrome that involves a defect in urate transporter1 (URAT1) for urate reabsorption at the brush border membrane of the proximal tubule in the kidney [1]. A G774A mutation in SLC22A12 encoding URAT1 is the dominant mutation in Japanese [2]. Since hypouricaem...

INTRODUCTION Ultrasonography is used routinely during pregnancy to screen and detect fetal abnormalities. However, there are some conditions like anhydramnios (a prevalent state in renal agenesis) or maternal obesity that may limit the diagnostic accuracy of ultrasonography. Magnetic resonance imaging has proven to be useful when ultrasound alone is insufficient to make a correct diagnosis. C...

Renal cell carcinoma is the most common type of renal malignancy and it originates from the renal tubular epithelium. Due to the diversity in the histopathological and molecular characteristics, it is typically subclassified into five different categories. Papillary renal cell carcinoma is one subclassification and it includes two variants: sporadic and hereditary. Although the hereditary form ...

During the past two decades, several new hereditary renal cancers have been discovered but are not yet widely known. Hereditary renal cancer syndromes can lead to multiple bilateral kidney tumors that occur at a younger age than that at which the nonhereditary renal cancers occur. The aim of our work is to review the features of hereditary renal cancers, the basic principles of genetic relevant...

Abstract Background This study aims to characterize the spectrum of imaging findings in patients Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome presenting with primary amenorrhoea. Objectives (1) To aid clinical diagnosis MRKH syndrome. (2) detect associated non gynecological anomalies. (3) arrive at optimal management options. Results prospective observational was performed 14 subjects who pre...