Disease Information for Renal dysplasia-Blindness/Hereditary (Loken-Senior)

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Clinical Manifestations
Signs & Symptoms
Ophthalmoscopic/Fundoscopic exam/abnormal
Retinal pigmentation
Typical Clinical Presentation
Presentation/Normal infant/Severe hereditary disease
Disease Progression
Course/Prognosis bad/usually
Course/Progressive
Course/Progressive/slowly chronic illness
Onset/Age 14-18 months
Onset/Childhood
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Kidney disease
Sex & Age Groups
Population/Child
Population/Children/all
Population/Young child ('Twos')
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Renal function abnormalities (Lab)
Abnormal Lab Findings - Decreased
Creatine clearance (Lab)
Abnormal Lab Findings - Increased
BUN/Blood urea nitrogen (Lab)
Creatinine, serum (Lab)
Diagnostic Test Results
Pathology
BX/Renal Abnormal
PATH/Kidney dysplasia renal medulla
CT Scan
CT Scan/Renal (Kidney) Abnormal
Ultrasound
Ultrasound/Renal (kidney) abnormality
Associated Diseases & Rule outs
Associated Disease & Complications
Acute anuria/renal failure
Azotemia in Children
Azotemia in Elderly
Azotemia/Acute
Blindness
Blindness in Children
Congenital urinary tract malformations
Hereditary Blindness
Medullary cystic disease
Pigmentary retinal dystrophy
Renal anomaly/aplasia/hypoplasia
Renal disease
Renal Failure Chronic
Retinitis pigmentosa
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Primary organ/system disorder (ex)
CLASS/Primary renal disease (ex)
CLASS/Renal glomerular disorder (ex)
CLASS/Renal/kidney involvement/disorder (ex)
CLASS/Urologic (category)
CLASS/Eye involvement/disorder (ex)
CLASS/Eyes/accessory (category)
Pathophysiology
Pathophysiology/Gene locus 16p12.1
Pathophysiology/Gene locus 2q13
Pathophysiology/Gene locus Chromosome 13
Pathophysiology/Gene locus Chromosome 16
Pathophysiology/Gene locus Chromosome 2
Pathophysiology/Gene locus chromosome 3
Pathophysiology/Gene locus Chromosome 9
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease renal effect
Pathophysiology/Renal function impairment
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Congenital renal disorder (ex)
Synonyms
Synonym
Renal dysplasia Blindness Hereditary (Loken Senior, Synonym/Juvenile nephronophthisis/Leber amaurosis, Synonym/Loken-Senior syndrome, Synonym/Nephonophthisis, juvenile, Synonym/Nephronophthisis, Synonym/Nephronopthisis, familial juvenile, Synonym/Renal dysplasia/Retinal aplasia, Synonym/Renal-Retinal dystrophy, Synonym/Renal-Retinal syndrome
Definition

Renal dysplasia, medullary cystic disease, with retinitis pigmentosa heredeitary disease begins to show about age 1; progressive wasting of renal units; known as Senior-Loken syndrome or renal-retinal dysplasia with nephronopthisis and overlaps with juvenile medullary cystic disease; progessive with poor prognosis blind with renal failure but rare disease; follows kindred course;autosomal recessive;

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External Links Related to Renal dysplasia-Blindness/Hereditary (Loken-Senior)
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Wikipedia
Merck
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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