Bladder pain syndrome (BPS) is a chronic condition characterized by pelvic pain or pressure which is perceived to be originating from the bladder, accompanied by one or more urinary symptoms, including frequency, urgency and nocturia. The precise etiology of BPS is not fully understood. Chronic bacterial infection, defective glycosaminoglycan (GAG) layer of the bladder urothelium, inappropriate activation of mast cells in the suburothelial layer of the bladder, autoimmune-mediated mechanisms and autonomic nervous system dysfunction have all been implicated. Treatments targeted at each of these mechanisms have been developed with mixed outcomes. High-quality research into the treatment options is lacking and it is difficult to draw definite conclusions. The treatment approach is multimodal and should be patient specific, targeting the symptoms which they find most bothersome. Conservative treatment, including patient education, behavioural modification, dietary advice, stress relief and physical therapy is an essential initial management strategy for all patients. If no response is observed, oral treatments such as amitriptyline are likely to offer the greatest response. Cystoscopy is essential to phenotype patients, and Hunner lesion directed therapy with fulguration or resection can be performed at the same time. Intravesical instillation of DMSO or lidocaine, detrusor injections of botulinum toxin A and neuromodulation can be used if initial management fails to improve symptoms. Oral cyclosporin can be trialled in those experienced with its use; however, it is associated with significant adverse events and requires intense monitoring. Lastly, radical surgery should be reserved for those with severe, unremitting BPS, in which quality of life is severely affected and not improved by previously mentioned interventions. Future work investigating exact aetiological factors will help target the development of efficacious treatment options, and several promising oral and intravesical treatments are emerging.
Cystic fibrosis (CF) affects about 70,000 individuals worldwide, whose lives are shortened mainly due to chronic pulmonary infections resulting from impaired clearance of abnormally viscous airway mucus. The development of novel drugs targeting specific CFTR gene mutations in a precision medicine framework improved treatment, so that for patients born in 2000-2003 in the UK, the median life expectancy was estimated at around 40 years. Moreover the discovery of the CRISPR (Classes of Regularly Interspaced Palindromic Repeats) and Cas9 (Crispr-ASsociated) nuclease system opened the perspective of specifically correcting the defective CFTR gene as recently demonstrated in a model of intestinal stem cell organoids from CF patients. In the present review, we shall outline the existing stateof-art treatments and the perspectives for the precision treatment of CF opened by CRISPR.
In other medical fields, it is significant that the value of diagnostic tests is not questioned. For instance, no orthopaedic surgeon would operate on a femoral fracture without access to a good quality X-ray showing the whole femur. In urological oncology, removal of the bladder or kidney would never be contemplated without an understanding of the full clinical picture based on objective diagnostic measures. In short, reliable diagnosis is essential for appropriate decision-making, especially considering the harms caused by mistreatmentbut the prerequisite for a proper diagnosis is to know the full picture, not just pieces of it. Patients with LUTS are no exception, and a failure to recognize that half the message is just mess will ultimately harm them.
Haematuria is a common finding in children and can be macroscopic or microscopic. In contrast to adults, haematuria in children very rarely indicates an underlying malignant pathology. The differential diagnosis is broad, with the most common underlying causes being infection, glomerulonephritis and hypercalciuria. It is useful to distinguish between nephrological or upper urinary tract and lower urinary tract pathologies, as this will guide investigations and referral. This review discusses the causes of haematuria in the paediatric population.
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