No abstract

Urofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and an abnormal facial expression upon smiling, laughing, and crying. We report that a subset of UFS-affected individuals have biallelic mutations in LRIG2, encoding leucine-rich repeats and immunoglobulin-like domains 2, a protein implicated in neural cell signaling and tumorigenesis. Importantly, we have demonstrated that rare variants in LRIG2 might be relevant to nonsyndromic bladder disease. We have previously shown that UFS is also caused by mutations in HPSE2, encoding heparanase-2. LRIG2 and heparanase-2 were immunodetected in nerve fascicles growing between muscle bundles within the human fetal bladder, directly implicating both molecules in neural development in the lower urinary tract.

Background: In childhood, the most common reason for a neurogenic bladder is related to spinal dysraphism, mostly myelodysplasia.Aims: Herein, we present the EAU/ESPU guidelines in respect to the diagnostics, timetable for investigations and conservative management including clean intermittent catheterization (CIC). Material and Methods: After a systematic literature review covering the period 2000 to 2017, the ESPU/EUAU guideline for neurogenic bladder underwent an update. Results: The EAU/ESPU guideline panel advocates a proactive approach. In newborns with spina bifida, CIC should be started as soon as possible after birth. In those with intrauterine closure of the defect, urodynamic studies are recommended be performed before the patient leaves the hospital. In those with closure after birth urodynamics should be done within the next 3 months. Anticholinergic medication (oxybutynin is the only well-investigated drug in this age group-dosage 0.2-0.4 mg/kg weight per day) should be applied, if the urodynamic study confirmed detrusor overactivity. Close follow-up including ultrasound, bladder diary, urinalysis, and urodynamics are necessary within the first 6 years and after that the time intervals can be prolonged, depending on the individual risk and clinical course. In all other children with the suspicion of a neurogenic bladder due to various reasons as tethered cord, inflammation, tumors, trauma, or other reasons as well as those with anorectal malformations, urodynamics-preferable video-urodynamics, should be carried out as soon as there is a suspicion of a neurogenic bladder and conservative treatment should be started soon after confirmation of the diagnosis of neurogenic bladder. With conservative treatment the upper urinary tract is preserved in up to 90%, urinary tract infections are common, but not severe, complications of CIC are quite rare and continence can be achieved at adolescence in up to 80% without further treatment. ORCID Raimund Stein

The COVID-19-pandemic forces hospitals to reorganize into a dual patient flow system. Healthcare professionals are forced to make decisions in patient prioritization throughout specialties. Most pediatric urology pathologies do not require immediate or urgent care, however, delay may compromise future renal function or fertility. Contact with patients and parents, either physical in safe conditions or by (video)telephone must continue.The Paediatric-Urology-Guidelines-panel of the EAU proposes recommendations on prioritization of care. Pediatric-Urology program directors must ensure education, safety and attention for mental health of staff. Upon resumption of care, adequate prioritization must ensure minimal impact on outcome.

Our initial results provide that microperc is a feasible, safe, and efficacious treatment modality for moderate-size kidney stones as well as small ones with its minimally invasive nature. Technical refinements are needed to achieve better results and overcome the limitations of technique.