Oculocerebrorenal syndrome: Difference between revisions

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{{CMG}}; {{AE}} {{AN}}
 
{{SK}} Lowe's syndrome


{{Infobox_Disease |
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   OMIM          = 309000 |
   OMIM          = 309000 |
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   eMedicineSubj  = oph |
   eMedicineSubj  = |
   eMedicineTopic = 516 |
   eMedicineTopic = |
   MeshID        = D009800 |
   MeshID        = D009800 |
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{{SI}}
{{CMG}}


{{EH}}
==Overview==
'''Oculocerebrorenal syndrome''' is a [[X-linked]] recessive disorder characterized by [[hydrophthalmia]], [[cataract]]s, [[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.<ref>{{WhoNamedIt|synd|3512}}</ref><ref>{{cite journal |author=Lowe CU, Terrey M, MacLachlan EA |title=Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity |journal=A.M.A. American journal of diseases of children |volume=83 |issue=2 |pages=164-84 |year=1952 |pmid=14884753 |doi=}}</ref>


==Overview==
==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===
*[[Cystinosis]]
*[[Fanconi's syndrome]]
*[[Hypophosphatemic rickets]]
 
==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==
*[[Muscle tone]] improves with age, but never comes back to normal.
*[[Scoliosis]]
*[[Hernia]]s
*[[Osteopenia]]
*[[Osteoporosis]]
*[[Rickets]]
*[[Fracture]]s
*[[Metabolic acidosis]]
 
==Diagnosis==
===History and Symptoms===
*[[Mental retardation]]
*[[Seizures]]
*[[Febrile seizure]]s
*Behavioral disturbances
**Temper tantrums
**Aggression
**Unusual repetitive movements
**[[Irritability]]
**[[Muscle rigidity|Rigidity]]
**Preoccupations and obsessions
*[[Constipation]]
 
===Physical Examination===
==== Appearance of the Patient ====
*Small eyes
*[[Frontal bossing]]
*[[Elongated face]]
 
====Skin====
*[[Cyst]]s
 
====Eyes====
*Decreased [[visual acuity]]
*[[Cataract]] at birth
*[[Glaucoma]] with or without [[buphthalmos]]
*[[Keloids]]s over [[conjunctiva]] and [[cornea]] without preceding trauma
*[[Strabismus]]
 
====Extremities====
*[[Joint swelling]]: small and large joints
*[[Arthritis]]
*[[Tenosynovitis]]
*Joint contractures
 
====Neurologic====
*Generalized neonatal [[hypotonia]]
*[[Areflexia]]
*Feeding difficulty
*Delayed motor development
*[[Delayed milestones]]
 
====Other====
*[[Cryptorchidism]]
*Skin and mucosal cysts
*Delayed dentition
*[[Dental caries]]
*Gingival inflammation
*Dental cysts
 
===Laboratory Findings===
====Urinalysis====
*Low [[osmolarity]]
*[[Albuminuria]]
*Low molecular weight [[proteiuria]]: [[retinol binding protein]], [[β2 microglobulin]]
*[[Bicarbonate]] loss
*[[Aminoaciduria]]
*[[Hypercalciuria]]
*[[Hyperphosphaturia]]
*Decreased [[creatinine clearance]]
*L-carnitine lost in urine
 
====Blood Tests====
*Raised [[ESR]]
*High [[alkaline phosphatase]]
*Blood gases:
**Low [[bicarbonate]] levels
**Compensatory decrease in PCO2 levels
*Raised [[serum creatinine]] levels
*Serum markers: Rise in
**[[AST]]
**[[LDH]]
**[[Creatinine kinase]]
*[[Acid phosphatase]]
*[[T4]], [[TSH]] levels increased
====Other tests====
*Measurement of enzyme activity in cultured [[fibroblasts]] is the preferred test for establishing diagnosis.
===X ray===
*[[Osteopenia]]
*Metaphyseal [[flarring]] and [[cupping]]
===MRI===
*[[Demyelination]] of [[white matter]] in the [[periventricular area]]
===Ultrasonography===
*[[Nephrocalcinosis]]
*[[Nephrolithiasis]]
 
==Treatment==
===Ocular===
*[[Glaucoma]]:
**Patients should be monitored for [[glaucoma]]
**Intraocular pressure lowering agents
**Surgery: [[Glaucoma surgery|trabeculotomy]], [[Glaucoma surgery|drainage filtration device]]
*Corneal keloids:
**Topical steroids, lubricants
**Lamellar keratectomy, corneal transplant
*[[Strabismus]] and [[refraction error]]s must be corrected.
*[[Catarct]]s should be surgically removed, preferably in the first 6 months of life, to prevent development of [[amblyopia]]. Aphakic correction must follow the surgery.
 
===Renal function===
*Must be monitored to look for development of [[Chronic renal failure|renal failure]], tubular wasting
*[[Blood pH]] and electrolytes should be followed up.
 
===Neurologic symptoms===
*[[Seizure]]s should be treated with appropriate [[anticonvulsant]]s.


'''Oculocerebrorenal syndrome''' (also called '''Lowe syndrome''') is a [[X-linked]] recessive disorder characterized by [[hydrophthalmia]], [[cataract]]s, [[mental retardation]], [[aminoaciduria]], reduced renal [[ammonia]] production and vitamin D-resistant [[rickets]].
===Diet===
*[[Phosphate]] supplements
*[[Carnitine]] replacement
*[[Vitamin D]] supplementation


It is associated with the [[gene]] [[OCRL]].
===Behavioral therapy===
*Behavioral modification for maladaptive behavioral patterns


==Eponym==
===Others===
It is named for Charles Upton Lowe.<ref>{{WhoNamedIt|synd|3512}}</ref><ref>{{cite journal |author=Lowe CU, Terrey M, MacLachlan EA |title=Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity |journal=A.M.A. American journal of diseases of children |volume=83 |issue=2 |pages=164-84 |year=1952 |pmid=14884753 |doi=}}</ref>
*[[Speech therapy]] and [[occupational therapy]] may be initiated as needed.


===Prevention===
==References==
==References==
<references/>
{{reflist|2}}


==External Links==
{{Metabolic pathology}}
*[http://www.lowesyndrome.org/ Lowe Syndrome Association Official Website]
*[http://www.lowetrust.com/ U.K. Lowe Syndrome Trust]


{{Metabolic pathology}}
[[Category:Endocrinology]]
[[fr:Syndrome de Lowe]]
[[de:Lowe-Syndrom]]
[[fi:Lowen oireyhtymä]]
[[pl:Zespół Lowe'a]]


[[Category:Inborn errors of metabolism]]
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Latest revision as of 19:28, 21 July 2016

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. ↑ Template:WhoNamedIt
  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.

Template:Metabolic pathology


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