2015 Rare Diseases-LSD-CME-Test OPEN Survey

Question Title

* 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

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* 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

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* 3. Which 3 body tissues are highly dependent on mucopolysaccharides?

Connective tissue

Adipose tissue

Vascular smooth muscle

Cartilage

Endothelial tissue

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* 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)

Question Title

* 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

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* 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

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* 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

Question Title

* 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

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* 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

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* 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

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* 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

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* 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

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* 13. What accumulates abnormally in Niemann Pick Type C?

Lipopolysaccharides (LPS)

Polypeptides

Cholesterol

ATP

Coenzyme A

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* 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

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* 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