Table 4. [Treatment of Manifestations in Individuals with Lowe Syndrome]. - GeneReviews®

Manifestation/ Concern	Treatment	Considerations/Other
Cataract	Early removal to promote proper visual stimulation & development Postoperative glasses to improve vision & replace the crystalline lens power	NOT recommended: Surgical implantation of artificial lenses (due to high prevalence of infantile glaucoma) Contact lenses (due to risk for corneal keloids)
Glaucoma	Manage w/standard medical & surgical measures.	Often difficult to control medically & almost invariably requires surgery
Developmental delays	Early infant therapy, preschool intervention program & IEP throughout schooling
Behavior problems	Behavior modification program	Medication may also be needed for behavior control.
Seizures	Anticonvulsant medication
Renal tubular dysfunction	Oral supplements of sodium & potassium bicarbonate or citrate to correct acidosis & hypokalemia	Doses need to be titrated to individual needs based on "trough" blood concentrations of serum electrolytes (sodium, potassium, chloride, & total carbon dioxide).
Treatment w/oral phosphate, along w/oral calcitriol (1,25-dihydroxyvitamin D₃) to correct hypophosphatemia & renal rickets from renal tubular dysfunction	Doses should also be titrated to individual needs based on trough blood concentration for phosphorus & serum concentrations of 1,25-dihydroxyvitamin D, calcium, & intact parathyroid hormone.
IV replacement of fluids, bicarbonate, & electrolytes at times of illness assoc w/vomiting & diarrhea or when fasting (e.g., w/surgical procedures)
ESRD	Chronic dialysis & renal transplant may be successful in some persons.	Progressive renal tubular injury → progressive glomerulosclerosis & CKD → ESRD (over yrs, usually by 2nd-4th decade)
Growth/ Feeding	Growth hormone therapy → improved growth velocity in some boys.	Potential benefits of such therapy must be weighed against its costs/limitations.
NG tube feedings or feeding gastrostomy w/or w/o fundoplication may be necessary to treat infant feeding & nutrition problems related to hypotonia. Standard treatment for gastroesophageal reflux, if present
Scoliosis & joint hypermobility	Bracing or surgery may be performed to arrest or correct severe or progressive scoliosis & joint hypermobility.
Fibromas & cutaneous cysts	Resection may be needed if painful, recurrently infected, or limiting function.

Manifestation/
Concern

Treatment

Considerations/Other

Cataract

Early removal to promote proper visual stimulation & development
Postoperative glasses to improve vision & replace the crystalline lens power

NOT recommended:

Surgical implantation of artificial lenses (due to high prevalence of infantile glaucoma)
Contact lenses (due to risk for corneal keloids)

Glaucoma

Manage w/standard medical & surgical measures.

Often difficult to control medically & almost invariably requires surgery

Developmental
delays

Early infant therapy, preschool intervention program & IEP throughout schooling

Behavior
problems

Behavior modification program

Medication may also be needed for behavior control.

Seizures

Anticonvulsant medication

Renal tubular dysfunction

Oral supplements of sodium & potassium bicarbonate or citrate to correct acidosis & hypokalemia

Doses need to be titrated to individual needs based on "trough" blood concentrations of serum electrolytes (sodium, potassium, chloride, & total carbon dioxide).

Treatment w/oral phosphate, along w/oral calcitriol (1,25-dihydroxyvitamin D₃) to correct hypophosphatemia & renal rickets from renal tubular dysfunction

Doses should also be titrated to individual needs based on trough blood concentration for phosphorus & serum concentrations of 1,25-dihydroxyvitamin D, calcium, & intact parathyroid hormone.

IV replacement of fluids, bicarbonate, & electrolytes at times of illness assoc w/vomiting & diarrhea or when fasting (e.g., w/surgical procedures)

ESRD

Chronic dialysis & renal transplant may be successful in some persons.

Progressive renal tubular injury → progressive glomerulosclerosis & CKD → ESRD (over yrs, usually by 2nd-4th decade)

Growth/
Feeding

Growth hormone therapy → improved growth velocity in some boys.

Potential benefits of such therapy must be weighed against its costs/limitations.

NG tube feedings or feeding gastrostomy w/or w/o fundoplication may be necessary to treat infant feeding & nutrition problems related to hypotonia.
Standard treatment for gastroesophageal reflux, if present

Scoliosis
& joint
hypermobility

Bracing or surgery may be performed to arrest or correct severe or progressive scoliosis & joint hypermobility.

Fibromas &
cutaneous cysts

Resection may be needed if painful, recurrently infected, or limiting function.

From: Lowe Syndrome

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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