Cystinosis clinical consultation checklist

Adhering to cystine-depleting therapy

Any new complaints

Are side effects manageable?

Missing doses?

Challenges with dosing regimen

What about other medications; managing to take them?

Still taking cystine-depleting therapy

Adherence to general treatment of Fanconi

Persistent polyuria

Still taking cystine-depleting therapy

Persistent need for electrolytes supplementation (potassium, phosphate, bicarbonates)

Any variation in residual urine volume

Persistent need for electrolytes supplementation (potassium, phosphate, bicarbonates)

Since transplant, patient has resumed/continued to take cystine-depleting therapy

Adherence to immunosuppression therapies

Other concerns?

Any reduced vision noted

Increased sensitivity to bright sunlight (photophobia) noted

Visual quality affected; (halos, peripheral flashing lights etc…) noted

Compliance with eye drops regimen

Any side effects once eye drops instilled (irritation, redness, visual blur or foreign body sensation etc.)

Date of last review with ophthalmologist

Recent toothache

Any soreness in mouth

Bleeding gums

Bad smell or peculiar taste in mouth

Burning tongue or reduced taste perception

Insufficient saliva to swallow food

Eating and drinking normally

Any issues with appetite

Changes in muscle strength (mainly distal muscles in the 4 limbs) noted?

Changes in muscle wasting (mainly distal muscles in the 4 limbs) noted?

Dysphagia noted?

Voice changes noted?

Coughing/aspiration during feeding?

Tires more easily during physical activity

Changes in handwriting (check if they find fine motor skills more difficult)

Able to perform fine motor tasks [insert a fine dexterity task appropriate for the patient, e.g. instrument playing, drawing, handicraft, etc]

Any headache noted?

Any complaints about attention deficit, memory deficit, or cognitive changes

Any gait difficulties (imbalance, stiff gait, slow gait…) noted?

Any neurological features (motor or sensory deficit, tremor, seizures)?

Breathing difficulties noted when at rest and/or during exercise

Monitor for diabetes mellitus (especially if patient is post-kidney transplant)

Test for hypothyroidism (total thyroxine and thyroid-stimulating hormone thyroid function tests)

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

Wish to have children

Ask if would like to receive genetic counselling
• Consider referral to genetic counsellor
• In pregnancy, consider referral to specialist team of obstetrics and gynaecology

Still taking cystine-depleting therapy whilst planning pregnancy

[If pregnant or wishing to become pregnant] Check understanding of when to stop and restart cystine-depleting therapy?

Suggest and advise high Sun Protection Factor (>30) sunblock (as required)

Any skin changes noted
Note sensitive, irritable, dry etc.

Any skin changes noted since transplant
Consider referral back to dermatologist and communicate with transplant team

Concerns about mood (ask family/carer?)

Financial difficulties/worries

Concerns with school/university/college/social life

Concerns at work

Issues with relationship (with spouse/partner)

Family coping? Would like additional support

Attended patient support groups

Would like to be put in touch with any other patients affected by cystinosis

Name of primary point of contact within care team

Requires additional information
Ask permission to provide new information; what and how

Any questions/concerns not already covered
Consider referral to specialist psychologist