The following general open-ended questions will provide an overview that may guide you immediately to specific areas of potential concern. Allow your patients to do most of the talking; demonstrate your understanding by reflecting back what they have told you, clarify when necessary. Try to avoid making the patient feel rushed, even if your time is limited.

Have you experienced any new symptoms since we last spoke?

How are you feeling generally?

What do you feel has been going well?

How active are you? Do you feel increasing fatigue when taking exercise?

How are you sleeping?

Notes

The patient’s white blood cell cystine level should be tested regularly (at least twice/year) and maintained at trough levels of <1nmol hemicystine/mg protein. Trough level measurements to be taken 6 hours after 4 x times daily cystine-depleting therapy and 12.5 hours after 2 x times daily cystine-depleting therapy. If the levels are elevated check dosing (maximum dose of 1.95g/m2/day) and adherence to medication with the patient. Common side effects (≥ 5%) are vomiting, nausea, abdominal pain, breath odour, diarrhoea, skin odour, fatigue, rash and headache.

Current dose of cystine-deplating therapy

Adhering to cystine-depleting therapy

No

Any new complaints

No

Are side effects manageable?

No

Missing doses?

No

If so, how often?

Challenges with dosing regimen

No

Reasons for missing doses; forget, or unable to for practical reasons?

What about other medications; managing to take them?

No

Please list other medications

Find a practical solution to help your patient maintain regular dosing.

SPECIFIC FOR PATIENTS WITH NATIVE KIDNEYS

Still taking cystine-depleting therapy

No

Adherence to general treatment of Fanconi

No

SPECIFIC FOR PATIENT ON DIALYSIS

Maintenance dialysis may be needed before kidney transplantation. Check the following with your patient while they are waiting for a kidney graft.

Persistent polyuria

No

Still taking cystine-depleting therapy

No

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

No

SPECIFIC FOR PATIENT POST KIDNEY TRANSPLANT

Any variation in residual urine volume

No

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

No

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

No

Adherence to immunosuppression therapies

No

Other concerns?

No

Consider referral back to transplant team

Ocular involvement

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

(check technique)

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

Dental

Recent toothache

No

Any soreness in mouth

No

Bleeding gums

No

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

MUSCLE INVOLVEMENT

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

Dysphagia noted?

No

Voice changes 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

NEUROLOGICAL INVOLVEMENT

Any headache noted?

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

RESPIRATORY

Breathing difficulties noted when at rest and/or during exercise

No

ENDOCRINE INVOLVEMENT

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

FAMILY PLANNING

Wish to have children

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

DERMATOLOGY

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

Concerns about mood (ask family/carer?)

No

Financial difficulties/worries

No

Concerns with school/university/college/social life

No

Concerns at work

No

Issues with relationship (with spouse/partner)

No

Family coping? Would like additional support

No

Attended patient support groups

No

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

No

Name of primary point of contact within care team

No

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

No

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

No

Additional notes

Please add all blood test results and other relevant data for the patient below