Oculocerebrorenal Dystrophy (Lowe Syndrome) Treatment & Management

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

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 more than 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.
  • 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.
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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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