Oculocerebrorenal Dystrophy (Lowe Syndrome) Treatment & Management

Updated: Apr 24, 2018
  • Author: Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP, FANA; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Treatment

Medical Care

Management of renal tubular acidosis in patients with oculocerebrorenal syndrome of Lowe (OCRL), or Lowe syndrome, includes the following:

  • Careful monitoring of acid-base status and electrolyte levels is required. Alkali supplements, such as sodium bicarbonate, sodium citrate and citric acid (Bicitra), or sodium citrate and potassium citrate (Polycitra), are administered to maintain plasma bicarbonate levels at 22 mEq/L. The dose of sodium bicarbonate can vary from 1-10 mEq/kg/d divided into 3 or 4 doses. Potassium citrate is preferable in patients with hypercalcuria to decrease nephrocalcinosis and urinary calcium excretion.

  • Potassium and calcium supplementation may be required to offset renal losses.

  • Oral carnitine supplementation may be necessary if plasma levels are abnormally low.

Neutral phosphate and vitamin D supplementation and careful maintenance of normal acid-base status are necessary to avoid rickets and osteomalacia.

Acute illness with attendant risk of dehydration and electrolyte abnormalities should be treated with aggressive intravenous fluid and electrolyte therapy.

Cryptorchidism may improve with hormonal therapy.

Human growth hormone therapy may be used in patients with short stature to improve growth velocity.

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Surgical Care

Ophthalmologic intervention

Removal of cataracts as early as possible, even within the first weeks of life, is indicated in order to provide the optimal visual stimulation to the developing brain.

Avoid corneal contact lenses because of associated risk of corneal keloid formation and complexities of contact lens care; artificial lens implants should also be avoided because of probable increased risk of glaucoma.

Glaucoma develops in about one half of all patients with Lowe syndrome and is typically difficult to treat. Surgical implantation of artificial valves to control the release of intraocular fluid is often required

Corneal keloids can interfere with vision. Treatment may consist of surgical removal of the scar tissue or radiation therapy. Corneal transplantation is problematic because of the difficulty in administering the required intensive postoperative care.

Surgical correction of strabismus is sometimes required.

Other procedures

If testes do not spontaneously descend in boys with cryptorchidism by age 5 years, surgical correction may be necessary.

Nasogastric tube feeding or gastrostomy (sometimes with fundoplication) may be indicated.

Resection of fibromas and cutaneous cysts is indicated if they are painful or impair function.

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Consultations

Ophthalmologist: Because eye complications are a primary manifestation of Lowe syndrome, meticulous management by an ophthalmologist is necessary. Cataract surgery is usually performed within the first few weeks of life. In addition, close monitoring of intraocular pressure is necessary because glaucoma is common and requires treatment. Corrective contact lenses or glasses, with or without eye patches, are required to manage the visual deficits caused by cataracts and strabismus.

Nephrologist: Renal Fanconi syndrome typically develops in children aged 1 year and requires replacement therapy to offset renal losses. Renal failure gradually develops within the second decade of life.

Orthopedist: Scoliosis and lone-bone deformities due to rickets and contractures may require orthopedic consultation.

Endocrinologist: Various endocrine problems in Lowe syndrome, such as growth hormone and luteinizing hormone dysfunction, have been described. Early detection and testing of the HPG axis in patients with Lowe syndrome can predict gonadal abnormalities and growth delays from a younger age, which enhances the overall case management into adolescence.

Clinical geneticist/metabolic disease specialist: A clinical geneticist/metabolic disease specialist is typically familiar with this very rare disorder and can help facilitate and interpret diagnostic testing. The specialist should work with the nephrologist and ensure proper genetic counseling.

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Diet

Some physicians have tried low-protein diets in an attempt to offset the renal disease, but a clear benefit from this diet has not been demonstrated. In general, a low-protein diet is not recommended in children because it may interfere with growth.

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Long-Term Monitoring

Hypotonia and mental retardation in oculocerebrorenal syndrome of Lowe (OCRL), or Lowe syndrome, necessitate physical, speech, and feeding therapy.

Physical therapy should be initiated in infancy. The initial goals may be head control, sitting, rolling over, and locomotion.

Speech delays are common and are multifactorial in origin. Contributing factors include hypotonia, high palate, and intellectual delays.

Hypotonia often causes feeding difficulties. Sucking, swallowing, and chewing may be impaired, and therapy may be helpful.

Services for the visually handicapped can be helpful.

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Inpatient & Outpatient Medications

Replacement of renal losses is essential.

Sodium citrate and citric acid (Bicitra) is an alkalizing agent used to manage metabolic acidosis. The therapeutic goal is to maintain serum bicarbonate levels at 22 mEq/L.

Neutral phosphate and vitamin D supplements may be necessary to prevent the development of osteomalacia or rickets caused by phosphaturia and calciuria. If a serum 25 hydroxy vitamin D study shows a level lower than 30 ng/mL, ergocalciferol or cholecalciferol is given to correct the deficiency. Active vitamin D (calcitriol) may be added for therapy of bone disease.

Carnitine may be used if renal losses are substantial enough to cause abnormally low blood levels.

Anticonvulsants are necessary in patients with seizures. However, anticonvulsants can interfere with vitamin D metabolism; therefore, caution is necessary.

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