Table 5.

Recommended Surveillance for Individuals with Lowe Syndrome

System/
Concern		EvaluationFrequency
Eyes Intraocular pressure monitoringEvery 6 mos life long
Other ophthalmic eval
  • As determined by specialist based on type & severity of eye abnormality
  • Promptly w/any signs of ↑ intraocular pressure (e.g., excessive tearing, eye rubbing, change in clarity/transparency of cornea)
CNS Developmental progress assessed & educational plan updated2x/yr for 1st 3 yrs, then annually
Brain imaging for any regression in abilities
Kidneys Kidney function assessment 1At least annually
  • If on supplemental bicarbonate or citrate, phosphorus or calcitriol or other vitamin D analog, need kidney function assessment 1 w/blood & urine tests
  • May need serum vitamin D-25 hydroxy to assess for parent vitamin D deficiency
Every 3-6 mos; more often after dose changes
Radiographs of long bones & growth plates if renal bone disease is presentRegular intervals as needed, but no more than every 6 mos
Growth Height/length & weight
  • Every 1-2 mos in infants
  • Every 3-6 mos in older children & adolescents
  • Every 3 mos if on growth hormone
Skeletal Monitor scoliosis & joint hypermobilityAnnually
Dental Exams by pediatric dentist2x/yr
1.

Testing includes measurement of (a) serum concentrations of electrolyte, blood urea nitrogen (BUN), creatinine, calcium, phosphorus, albumin, intact parathyroid hormone, and 1,25-dihydroxyvitamin D and (b) urinalysis and random urine protein, calcium, and creatinine.

From: Lowe Syndrome

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