Any reduced vision noted
No
Increased sensitivity to bright sunlight (photophobia) noted
No
Visual quality affected; (halos, peripheral flashing lights etc…) noted
No
Compliance with eye drops regimen
No
Any side effects once eye drops instilled (irritation, redness, visual blur or foreign body sensation etc.)
No
Date of last review with ophthalmologist
Consider referral to specialist ophthalmologist
Bad smell or peculiar taste in mouth
No
Burning tongue or reduced taste perception
No
Insufficient saliva to swallow food
No
Date last seen by a dentist
[Consider referral to specialist dentist]
GASTROINTESTINAL AND DIET
Eating and drinking normally
No
Any issues with appetite
No
Any weight loss noted
Consider referral to dietician
No
Any digestive symptoms (e.g. heartburn, reflux)
Review medications; consider referral to specialist dietician if appropriate
No
Changes in muscle strength (mainly distal muscles in the 4 limbs) noted?
No
Changes in muscle wasting (mainly distal muscles in the 4 limbs) noted?
No
Coughing/aspiration during feeding?
No
Tires more easily during physical activity
No
Changes in handwriting (check if they find fine motor skills more difficult)
No
Able to perform fine motor tasks [insert a fine dexterity task appropriate
for the patient, e.g. instrument playing, drawing, handicraft, etc]
No
Any complaints about attention deficit, memory deficit, or cognitive changes
No
Any gait difficulties (imbalance, stiff gait, slow gait…) noted?
No
Any neurological features (motor or sensory deficit, tremor, seizures)?
No
Breathing difficulties noted when at rest and/or during exercise
No
Monitor for diabetes mellitus (especially if patient is post-kidney transplant)
No
Test for hypothyroidism (total thyroxine and thyroid-stimulating hormone
thyroid function tests)
No
Test for hypogonadism
Ask about emergence of secondary sexual characteristics in adolescence (if appropriate)
o Consider referral to endocrinologist if concerns for any of the above
No
Ask if would like to receive genetic counselling
• Consider referral to genetic counsellor
• In pregnancy, consider referral to specialist team of obstetrics and gynaecology
No
Still taking cystine-depleting therapy whilst planning pregnancy
No
[If pregnant or wishing to become pregnant]
Check understanding of when to stop and restart cystine-depleting therapy?
No
Suggest and advise high Sun Protection Factor (>30) sunblock (as required)
No
Any skin changes noted
Note sensitive, irritable, dry etc.
No
For post-transplant patients
Any skin changes noted since transplant
Consider referral back to dermatologist and communicate with transplant team
No