Table 5

Recommendations for the care of patients with NPS

  • Annual screening for renal disease from birth. This should include blood pressure and urine analysis. A urine albumin:creatinine ratio on a first morning urine is preferable to urine analysis dipsticks as it is a more sensitive measure and corrects for concentration of the urine. If any abnormalities are detected the patient should then be referred to a renal physician for further investigation and follow up.

  • Screening for glaucoma every two years in adulthood. This should include measurement of intraocular pressure, examination of the optic disc, and assessment of visual fields in order to detect normal pressure glaucoma. If any abnormalities are detected, patients should be referred to an ophthalmologist.

  • Before treatment such as surgery or intensive physiotherapy is considered for orthopaedic abnormalities, it is recommended that information on possible abnormal anatomy of both bone and soft tissue is acquired by magnetic resonance imaging (MRI).

  • Genetic counselling should be offered to all patients with NPS.