Oculocerebrorenal Dystrophy (Lowe Syndrome) Medication

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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Medication

Medication Summary

Medications are necessary in oculocerebrorenal syndrome of Lowe (OCRL), or Lowe syndrome, to offset the renal losses of electrolytes and other substances.

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Minerals and electrolytes

Class Summary

These agents are used to correct disturbances in fluid and electrolyte homoeostasis or acid-base balance. They are also used to reestablish osmotic equilibrium of specific ions. Renal losses of calcium and phosphate may predispose to the development of osteomalacia and rickets.

Calcitriol (Rocaltrol)

Used to manage rickets and osteomalacia. A synthetic vitamin D analog (1 α, 25-dihydroxycholecalciferol or 1 α, 25-dihydroxyvitamin D3) that is active in regulating the absorption of calcium from the intestinal tract and its utilization in the body.

Sodium citrate and citric acid (Bicitra)

Systemic alkalizer solution used to treat renal tubular acidosis. Following ingestion, citrate salts are oxidized to bicarbonate. Each mL contains 1 mEq sodium ion and is equivalent to 1 mEq bicarbonate.

Phosphate salts (Neutra-Phos)

Increases serum phosphate levels and is used to manage rickets and osteomalacia. Serum phosphate is important in regulating serum calcium concentration. In patients with increased urinary excretion of phosphorus and calcium, neutral phosphorus is necessary to offset these losses and to prevent osteomalacia and rickets. One g of phosphorus equals 32.29 mmol.

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Amino acids

Class Summary

These are essential cofactors of fatty acid metabolism. Oral carnitine may be used to replace urinary losses. Its efficacy in altering the outcome of patients with oculocerebrorenal syndrome of Lowe is unclear.

Levocarnitine (Carnitor)

A carrier molecule involved in the transport of long-chain fatty acids across the inner mitochondrial membrane.

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