RESUMO
Congenital anomalies of the kidney and urinary tract are collectively one of the most commonly diagnosed antenatal conditions. Clinicians have several tools available to diagnose anomalies, including imaging, biomarkers, family history and genetic studies. In certain cases, antenatal interventions such as vesico-amniotic shunting may be considered to improve postnatal outcomes.Congenital kidney anomalies detected antenatally can vary in clinical significance from almost no impact postnatally to significant morbidity and perinatal mortality. Prognosis broadly depends on kidney size, structure and amount of amniotic fluid, alongside genetics and family history, and progression on subsequent scans. It is important to counsel parents appropriately using a parent-focused and personalised approach. The use of a multidisciplinary team should always be considered.
Assuntos
Sistema Urinário , Anormalidades Urogenitais , Feminino , Humanos , Gravidez , Anormalidades Urogenitais/diagnóstico por imagem , Anormalidades Urogenitais/terapia , Rim/diagnóstico por imagem , Rim/anormalidades , Sistema Urinário/diagnóstico por imagem , Sistema Urinário/anormalidades , Diagnóstico Pré-Natal , AconselhamentoRESUMO
This is an overview of the challenges associated with screening for asymptomatic intracranial aneurysms (ICA) in children with autosomal dominant polycystic kidney disease (ADPKD). ADPKD is the most common inherited kidney disease affecting 1 in 1,000 people. ICAs are an extra-kidney manifestation of ADPKD, and while the exact pathophysiology of how they develop is unknown, we know that they more commonly occur in the adult rather than paediatric population. ICAs can be found in up to 9-11.5% of adults with ADPKD, but ICA rupture remains a rare event in adults with an incidence of 0.04 per 100 patient years. ICA size is an important factor in determining the risk of aneurysm rupture and therefore affects the decision on intervention in asymptomatic adults. For some, unruptured aneurysms cause no clinical significance, but those that rupture can be associated with devastating morbidity and mortality. Therefore, if detected, the treatment for unruptured ICAs is usually endovascular coiling, alongside recognising the importance of preventative interventions such as hypertension management. There are, however, no current guidelines for either adult or paediatric patients with ADPKD supporting regular screening for asymptomatic ICAs, although there is a suggestion for individualised practice, for example, with those with a positive family history. The UK clinical guidelines for ADPKD in children make research recommendations due to a lack of published literature, which in itself indicates that ICA rupture is an extremely rare phenomenon in children.