Table 2 Clinical care guidelines for individuals with ERCC1-hepatorenal syndrome (Unless specified, all surveillance recommendations are suggested from the time of diagnosis).

Liver

Liver function tests

Abdominal ultrasound (US)

Alpha feto protein (AFP)

MRI and/or CEUS if available

Annual

3 months

3 months

Annual from time of diagnosis. Also consider MRI or CEUS if a lesion is seen on US or there is a rise in AFP, or in presence of cirrhosis

Refer to hepatologist if liver function abnormal

Kidney

Kidney ultrasound to assess growth, echogenicity, and the presence of nephrocalcinosis.

Comprehensive urinalysis to screen for albuminuria, low molecular weight proteinuria, electrolyte imbalances, and glucosuria.

Serum biochemistry, including measurements of urea, creatinine, and electrolytes.

Blood pressure monitoring to identify hypertensive complications.

Individuals should be considered as having reduced kidney reserve and nephrotoxic agents should be avoided where alternatives exist, e.g., if choosing antibiotics to treat infection.

Annual

Refer to nephrologist if abnormal

Growth

Document height, weight and head circumference

Early referral to a dietitian to optimize weight gain

Annual

Neurological function

Monitoring of development

Consider a brain MRI if regression occurs

Annual

Skin

Rigorous avoidance of sun and other UV exposures, similar to the management of individuals with XP

Examination of skin by a dermatologist

Annual

Refer to a dermatologist

Eyes

Rigorous avoidance of ocular exposure to sun – sunglasses

Examination of eyes by an ophthalmologist

Annual

Refer to an ophthalmologist

Thyroid

Thyroid function tests

Annual

Puberty

Clinical monitoring of pubertal development

Annual from age ten years

Respiratory function

Clinical monitoring of respiratory symptoms and consideration of lung function testing

Annual from ten years

Pancreatic function

Fasting blood glucose

Fecal elastase

Annual

Annual