An overview of Alkaptonuria (AKU) or 'black bone disease'
This module provides a review of alkaptonuria (AKU) or ‘black bone disease’, including the signs, symptoms, diagnosis and management of the condition.
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This module aims to provide an overview of AKU in adults and children and offer insights into the presentation of people with the condition, the effects it has on those diagnosed, and the physical and psychological issues that nurses and the multidisciplinary team should address in managing the care and treatment of those with this condition. The time out activities are intended to supplement the module and further readers' understanding of this rare genetic disease that is currently incurable.Don't forget that you do not have to complete our two-hour learning modules all in one go. Tailor your learning to fit into your busy schedule by undertaking one or two sections at a time. You can stop and save your learning at any point and pick up where you left off when you return. Learning aims and intended outcomes Explain the metabolic pathway that leads to AKU Describe the signs and symptoms that might indicate a diagnosis of AKU or that may lead to a delay in diagnosis Discuss the impact of AKU on the quality of life of patients, their family and carers Identify and describe the referral pathway, locally, to the UK's National Alkaptonuria Centre (NAC) in Liverpool and consider any wider support if working overseas Outline the principles of current management and pharmacological treatment of patients with this long-term conditionDisclaimer Please note that information provided by RCNi Learning is not sufficient to ensure competence in the skill. Assessment of competence should take place in line with local practice. Practice should always align with local protocols and procedures, latest guidelines and any regulatory code. All modules should currently be viewed together with available national and local Covid-19 guidelines. For advice, go to www.rcn.org.uk/covid-19
Resource last reviewed
5 Apr 2023
Authors
Helen Bygott (Metabolic medicine specialist nurse, Liverpool University Hospital Trust)
Lesley Harrison (Head of patient support and welfare, AKU Society, Cambridge.)