Oculocerebrorenal Dystrophy (Lowe Syndrome) Medication

  • Author: Amira Al-Uzri, MD, MCR; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Mar 27, 2012
 

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.

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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.

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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.

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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.

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Levocarnitine (Carnitor)

 

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

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Contributor Information and Disclosures
Author

Amira Al-Uzri, MD, MCR  Associate Professor of Pediatrics, Director, Pediatric Clinical Research Office, Director, Pediatric Clinical and Translational Research Center, Department of Pediatrics, Divison of Pediatric Kidney Services and Hypertension, Oregon Health and Science University School of Medicine

Amira Al-Uzri, MD, MCR is a member of the following medical societies: American Society of Nephrology, American Society of Pediatric Nephrology, and American Society of Transplantation

Disclosure: Nothing to disclose.

Coauthor(s)

Robert D Steiner, MD  Credit Unions for Kids Professor of Pediatric Research, Professor of Pediatrics and Molecular and Medical Genetics, Vice Chair for Research, Department of Pediatrics, Faculty, Program in Molecular and Cellular Biosciences, Oregon Health and Science University School of Medicine; Attending Physician, Doernbecher Children's Hospital; Staff Consultant, Director of Metabolic Bone Disease Clinic, Shriners Hospital Portland

Robert D Steiner, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics, American Society of Human Genetics, Oregon Medical Association, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism, and Western Society for Pediatric Research

Disclosure: Amicus Honoraria Consulting; Actelion Honoraria Consulting; Actelion Honoraria Speaking and teaching; Biomarin Honoraria Consulting; Genzyme Honoraria Consulting; Shire Honoraria Consulting

Melissa P Wasserstein, MD  Associate Professor, Departments of Genetics and Genomic Sciences and Pediatrics, Mount Sinai School of Medicine

Melissa P Wasserstein, MD is a member of the following medical societies: American Society of Human Genetics

Disclosure: Nothing to disclose.

Cydney L Fenton, MD  Director, Center for Diabetes and Endocrinology, Akron Children's Hospital

Cydney L Fenton, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, Endocrine Society, and Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Ian Krantz, MD  Department of Pediatrics, Assistant Professor, University of Pennsylvania and Children's Hospital of Philadelphia

Ian Krantz, MD is a member of the following medical societies: American Society of Human Genetics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Leonard G Feld, MD, PhD, MMM, FAAP  Sara H Bissell and Howard C Bissell Endowed Chair in Pediatrics, Chief Medical Officer, Levine Children's Hospital, Carolinas Medical Center

Leonard G Feld, MD, PhD, MMM, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Physician Executives, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Juvenile Diabetes Foundation International

Disclosure: Nothing to disclose.

Daniel Rauch, MD, FAAP  Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine

Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine

Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

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The classic lenticular opacities in a female carrier for Lowe syndrome. Note the punctate cortical opacities in radical wedges. (Photo courtesy of Otis Paul, MD)
 
 
 
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