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An overview of Alkaptonuria (AKU) or 'black bone disease'

Author: Lesley Harrison, Helen Bygott, Emily Luangrath

Duration: 2 hours Last updated: 2023 Quality Assurance: Peer-reviewed Level: Qualified nurses Language: English

Course description

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 condition

Syllabus

  • Introduction
  • The basic science of AKU
  • Clinical features of AKU
  • Childhood diagnosis
  • Adult diagnosis
  • Living with AKU
  • Management
  • Treatment
  • Conclusions

Authors

LH
Lesley Harrison
Head of patient support and welfare, AKU Society, Cambridge.
HB
Helen Bygott
Metabolic medicine specialist nurse, Liverpool University Hospital Trust.
EL
Emily Luangrath
Metabolic medicine specialist nurse, Liverpool University Hospital Trust.

Disclaimer

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

Syllabus

  • Introduction
  • The basic science of AKU
  • Clinical features of AKU
  • Childhood diagnosis
  • Adult diagnosis
  • Living with AKU
  • Management
  • Treatment
  • Conclusions

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