Arterial calcification due to CD73 deficiency or Calcification of joints and arteries is a rare genetic disorder affecting adults.Nitschke Y, Rutsch F (2012) Genetics in arterial calcification: Lessons learned From rare diseases. Trends Cardiovasc Med 22(6):145-149

Presentation

This condition is characterised by calcification of the peripheral arteries. The lower limbs are more commonly affected than the upper limbs. This may be clinically silent but may also present with

ischemia Ischemia or ischaemia is a restriction in blood supply to any tissue, muscle group, or organ of the body, causing a shortage of oxygen that is needed for cellular metabolism (to keep tissue alive). Ischemia is generally caused by problems wi ...

of the affected limb(s).

Genetics

This condition is caused by mutations in the 5'-Nucleotidase Ecto ( NT5E) gene.Kordaß T, Osen W and Eichmüller SB (2018) Controlling the immune suppressor: Transcription factors and microRNAs regulating CD73/NT5E Front. Immunol This gene is found on the long arm of

chromosome 6 Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 spans more than 170 million base pairs (the building material of DNA) and represents between 5.5 and 6% of the total ...

(6q14.3). The protein hydrolyies extracellular adenosine monophosphate. It is found on the cell surface of many cell types. The protein is also known as CD73. It acts as a homodimer and functions in conjunction with in concert with ectonucleoside triphosphate diphosphohydrolase-1 ( ENTPD1) also known as CD39.This condition is inherited in an autosomal recessive fashion.

Diagnosis

Medical evaluation and genetic test are used to ascertain Arterial calcification due to CD73 deficiency

Incidence

This a rare disorder, up to 2020 less than 20 individuals have been reported to have the condition

History

This condition was first described in 2011.St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M (2011) NT5E mutations and arterial calcifications. N Engl J Med 364(5):432-42

References

{{DEFAULTSORT:Calcification of joints and arteries Rare syndromes Congenital disorders Rare diseases Autosomal recessive disorders