2015 Rare Diseases-LSD-CME-Test OPEN
About the test
1 Point per correct full question, i.e. max 15 points for the whole test
Grading: pass/no pass only (minimum requirement for pass = 66% = 10 points)
1.
Which cellular pathology is present in all lysosomal storage disorders?
Dysfunctional cellular protein synthesis
Accumulation of non-degraded metabolites in organelles
Impaired cellular glucose uptake
Uncoupled cellular ATP generation
Loss of the cellular membrane potential
2.
For which 3 reasons are early diagnosis of lysosomal storage disorders important?
Some of them are now treatable
Early diagnosis and treatment can normalise the lives of otherwise disabled patients
If diagnosed and treated early, patients can have their quality of life improved
Treatment can extend the lives of patients
Available treatments can repair the underlying genetic problem
3.
Which 3 body tissues are highly dependent on mucopolysaccharides?
Connective tissue
Adipose tissue
Vascular smooth muscle
Cartilage
Endothelial tissue
4.
What type of compound should be looked for in a urine sample to diagnose MPS?
Lipopolysaccharides (LPS)
Ribonucleic acids (RNA)
Phospholipids
Sphingolipids
Glycosaminoglycans (GAGs)
5.
What type of disease onset characterises inborn metabolic errors such as lysosomal storage diseases?
Failure to thrive in the first week of life
Non-specific clinical signs years after birth
A sudden metabolic crisis
There are no clinical signs; only laboratory tests can indicate a disease
Multiple episodes of persistent eczema and high fever
6.
Which body part is typically not affected at the onset of a lysosomal storage disorder?
The face
The liver
The heart
The spleen
The brain
7.
Which of the following problems is NOT typically seen in a 3 year old child with a lysosomal storage disease?
Speech Difficulties
Hyperactivity
Coarse faces
Breathing problems
History of multiple and recurrent infections
8.
Which of the following examinations will not help specifically to reveal a possible lysosomal storage disease?
Examine facial structures
Examine the dental status
Palpation to monitor inner organ size
Examine the structure of hands
Send a urine sample for GAG analysis
9.
Which two medical specialties are most appropriate for referral of patients with potential MPS?
Orthopaedic surgeon
Clinical geneticist
Neurologist
Metabolic paediatrician
Respiratory and allergy specialist
10.
Why may a bone marrow transplantation be justified in children with MPS?
It restores the immune system
It secures sufficient availability of erythrocytes
It protects the brain
It is enables long term control of the joints
It prevents spinal cord deformation
11.
Which 3 historical features are typical for an adolescent with an undiagnosed lysosomal storage disease?
Ataxia and difficulties to move
Impaired eye movement
Seasonal palpitations
Recurrent difficulties to breathe
Cognitive and psychiatric difficulties
12.
What type of clinical assessment is a good and inexpensive first-line test to confirm possible abdominal organ enlargement?
CT-scan
MRI
Dexa-scan
Ultrasound
PET scan
13.
What accumulates abnormally in Niemann Pick Type C?
Lipopolysaccharides (LPS)
Polypeptides
Cholesterol
ATP
Coenzyme A
14.
What is the most typical clinical symptom for Niemann Pick C?
Premature atherosclerosis
Progressive neurological damage
Autoimmune reactions to self-produced lipopolysaccharides
Skeletal deformations
Progressive arthritis
15.
For which three reasons are Niemann Pick C and MPS important rare diseases to know about for primary care paediatricians?
They are progressive
They are treatable
They are unusually difficult to diagnose
They trigger rapid childhood mortality
They can be entirely cured if treated early
