Advances in Molecular Mechanisms of Kidney Disease: Integrating Renal Tumorigenesis of Hereditary Cancer Syndrome.

Renal cell carcinoma (RCC) comprises various histologically distinct subtypes, each characterized by specific genetic alterations, necessitating individualized management and treatment strategies for each subtype. An exhaustive search of the PubMed database was conducted without any filters or restrictions. Inclusion criteria encompassed original English articles focusing on molecular mechanisms of kidney cancer. On the other hand, all non-original articles and articles published in any language other than English were excluded. Hereditary kidney cancer represents 5-8% of all kidney cancer cases and is associated with syndromes such as von Hippel-Lindau syndrome, Birt-Hogg-Dubè syndrome, succinate dehydrogenase-deficient renal cell cancer syndrome, tuberous sclerosis complex, hereditary papillary renal cell carcinoma, fumarate hydratase deficiency syndrome, BAP1 tumor predisposition syndrome, and other uncommon hereditary cancer syndromes. These conditions are characterized by distinct genetic mutations and related extra-renal symptoms. The majority of renal cell carcinoma predispositions stem from loss-of-function mutations in tumor suppressor genes. These mutations promote malignant advancement through the somatic inactivation of the remaining allele. This review aims to elucidate the main molecular mechanisms underlying the pathophysiology of major syndromes associated with renal cell carcinoma. By providing a comprehensive overview, it aims to facilitate early diagnosis and to highlight the principal therapeutic options available.

Robotic bladder diverticulectomy with concurrent management of bladder outlet obstruction: A choice to consider.

INTRODUCTION: Acquired bladder diverticula (BD) are associated with bladder outlet obstruction. The aim of our study is to analyse the improvement in lower urinary tract symptoms (LUTS) in patients who underwent robot-assisted bladder diverticulectomy (RABD) combined with transurethral prostatectomy (TURP). MATERIAL AND METHODS: A prospectively single-centre, single surgeon cohort of four patients with posterolateral BD due to bladder outlet obstruction (BOO) undergoing RABD combined with TURP between 2018 and 2023 was analysed. RESULTS: Median age and maximum BD diameter were 73.5 years and 16 cm, respectively. All patients had severe LUTS and elevated postvoid residual (PVR). Preliminary uroflowmetry revealed bladder outlet obstruction with a median of maximum urine flow rate of 8.5 ml/s. The median operative time and blood loss were 212 min and 100 ml, respectively. No intraoperative complications were recorded. The median length of stay was 4 days. The International Prostate Symptom Score (IPSS) and PVR were compared between baseline, 1 month and 6 months after surgery. IPSS significantly decreased from 24 (IQR 24-25) preoperatively compared to the postoperative, at 1 month follow up 7 (IQR 6-8) (p < 0.0001). PVR significantly decreased too from 165 (IQR 150-187) to 35 ml (IQR 25-42) (p < 0.0001). In transitioning from the 1-month follow-up to the 6-month follow-up, no substantial statistical improvement was observed. CONCLUSION: Concomitant performance of TURP with RABD is feasible and safe. Diverticulectomy in addiction at the endoscopic procedure should be discussed with patients who have obstructive lower urinary tract symptoms as viable alternative to single procedure individually performed.

Mastering bladder paraganglioma for optimal treatment: a case report of robot-assisted surgery.

Bladder paraganglioma is a rare neuroendocrine neoplasm, either functional or non-functional, arising from the urinary bladder. Functional variants present with catecholamine-related symptoms, while non-functional variants pose diagnostic challenges, mimicking urothelial carcinoma. Misdiagnosis risks underscore the importance of accurate identification for appropriate patient management. In this case, a 52-year-old man, diagnosed incidentally with hypertension and reported occasional post-micturition tachycardia, underwent abdominal ultrasound for known hepatic cyst follow-up, revealing an oval hypoechoic bladder mass. Initial consideration of bladder urothelial carcinoma prompted further investigation with contrast-enhanced CT scan and cystoscopy that confirmed extrinsic mass nature, and subsequent robotic-assisted partial cystectomy was performed. Histologically, the removed mass exhibited characteristic features of bladder paraganglioma. Postoperative recovery was uneventful, with resolution of post-micturition tachycardia at 1 month. Follow-up includes endocrinological evaluation and a 6-month CT scan. In conclusion, bladder paraganglioma should be considered in para-vesical mass differentials. This case highlights the importance of meticulous history collection, even in asymptomatic patients, the need for a multidisciplinary approach for accurate diagnosis and management of this rare condition, and the robotic approach as a viable option.

Pathophysiology and Main Molecular Mechanisms of Urinary Stone Formation and Recurrence.

Kidney stone disease (KSD) is one of the most common urological diseases. The incidence of kidney stones has increased dramatically in the last few decades. Kidney stones are mineral deposits in the calyces or the pelvis, free or attached to the renal papillae. They contain crystals and organic components, and they are made when urine is supersaturated with minerals. Calcium-containing stones are the most common, with calcium oxalate as the main component of most stones. However, many of these form on a calcium phosphate matrix called Randall's plaque, which is found on the surface of the kidney papilla. The etiology is multifactorial, and the recurrence rate is as high as 50% within 5 years after the first stone onset. There is a great need for recurrence prevention that requires a better understanding of the mechanisms involved in stone formation to facilitate the development of more effective drugs. This review aims to understand the pathophysiology and the main molecular mechanisms known to date to prevent recurrences, which requires behavioral and nutritional interventions, as well as pharmacological treatments that are specific to the type of stone.