PPM -Management of Patients with Urea Cycle Disorders-Checklist

Checklist

Pdf Summary

This document provides a checklist for the management of patients with urea cycle disorders. The checklist includes the following points to be asked and recorded during patient visits:<br /><br />1. Document the method of diagnosis in the patient record.<br />2. Document/update the family history, including at-risk individuals.<br />3. Review the diagnosis, inheritance pattern, and recurrence risks.<br />4. Document the history of hospitalizations and intercurrent hyperammonemia.<br />5. Document growth parameters (height/weight and head circumference in children, weight/height and BMI in adults).<br />6. Document development, behavior, and cognitive performance.<br />7. Review nutrition management with a dietician, including protein intake, calories, and assessment of nutritional deficiencies.<br />8. Review medications and dosage, including ammonia scavengers or amino acid supplements.<br />9. Review interval labs, including ammonia levels, plasma amino acids, iron indices, liver transaminases, electrolytes, and plasma carnitine levels.<br />10. Document/recommend periodic assessment of liver size and structure, especially in certain deficiencies associated with hepatocellular carcinoma risk.<br />11. Discuss liver transplant candidacy.<br />12. Provide education and documentation to the family and primary care provider regarding symptoms of hyperammonemia, fasting avoidance, and management of illness or planned surgery.<br />13. Provide a copy of an emergency letter and instructions to the patient/family on what to do if the patient becomes ill.<br />14. Discuss pregnancy management for individuals who may become pregnant.<br /><br />These points aim to ensure comprehensive management and monitoring of patients with urea cycle disorders, addressing various aspects such as diagnosis, nutrition, medication, labs, liver assessment, education, and pregnancy management.

Keywords

urea cycle disorders

patient management

diagnosis

family history

nutrition management

medications

interval labs

liver size

liver structure

pregnancy management