Kidney disease in nail-patella syndrome

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Kidney disease in nail-patella syndrome

Which of the following is not one of the classic tetrad of diagnostic features of NPS:

a. Dysplastic finger or toe nails
b. Elbow dysplasia
c. Low-set ears
d. Hypoplastic or absent patellae

The gene responsible for NPS-LMX1B-is:

a. Expressed only after birth
b. On the X chromosome
c. A LIM-homeodomain transcription factor
d. Quite different in sequence from its non-human mammalian orthologs

Kidney failure in NPS is:

a. Associated with sensorineural hearing loss
b. Rare under the age of 40 years
c. Relatively uncommon (5-10% of individuals)
d. Associated with more severe changes of the GBMon biopsy

Some sign of kidney involvement (hematuria, proteinuria, increased creatinine) in NPS is found in:

a. <10% of individuals
b. 10-20% of individuals
c. 30-40% of individuals
d. 100% of individuals

The pathology of NPS in the kidney is characterized by:

a. Diffuse IgG deposits in the mesangium
b. Fibrillar collagen in the lamina densa of the GBM
c. Its close prognostic connection to functional outcome
d. Being non-specific for this disorder

Tags: Genetic Disorders of the Kidney