Oculocerebrorenal syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]

Synonyms and Keywords: Lowe's syndrome

Oculocerebrorenal syndrome
ICD-10 E72.0
ICD-9 270.8
OMIM 309000
DiseasesDB 29146
MeSH D009800

Overview

Oculocerebrorenal syndrome is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets.

Historical Perspective

It is named after Charles Upton Lowe, who was the first to describe the condition.[1][2]

Classification

Pathophysiology

  • Mutation in the OCRL gene leads to membrane defects which results in inability of proximal tubular cells to reabsorb low molecular weight proteins, bicarbonates and phosphorus.
  • There is impaired intra-cellular protein folding and sorting, especially in polarized cells like renal epithelium and optic lens. This explains the pathogenesis of renal dysfunction and cataract.

Genetics

It is associated with mutation in the gene OCRL.

Causes

Differentiating Oculocerebrorenal syndrome from other diseases

Differential diagnosis

Epidemiology and Demographics

  • Oculocerebrorenal syndrome is a rare disease with a prevalence of about 1 in 200,000 to 1 in every 500,000 births.

Sex

  • As the disease follows an X-linked inheritance pattern, almost all affected patients are males. However, a few females with this condition have been reported.

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Appearance of the Patient

Skin

Eyes

Extremities

Neurologic

Other

Laboratory Findings

Urinalysis

Blood Tests

Other tests

  • Measurement of enzyme activity in cultured fibroblasts is the preferred test for establishing diagnosis.

X ray

MRI

Ultrasonography

Treatment

Ocular

Renal function

  • Must be monitored to look for development of renal failure, tubular wasting
  • Blood pH and electrolytes should be followed up.

Neurologic symptoms

Diet

Behavioral therapy

  • Behavioral modification for maladaptive behavioral patterns

Others

Prevention

References

  1. synd/3512 at Who Named It
  2. Lowe CU, Terrey M, MacLachlan EA (1952). "Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity". A.M.A. American journal of diseases of children. 83 (2): 164–84. PMID 14884753.



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