Jansen's metaphyseal chondrodysplasia

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Jansen's metaphyseal chondrodysplasia
Other namesMurk Jansen-type metaphyseal chondrodysplasia, Jansen metaphyseal dysostosis, Jansen disease
autosomal dominant
manner.

Jansen's metaphyseal chondrodysplasia (JMC) is a disease that results from

PTH1R) of the parathyroid hormone receptor
, due to one of three reported mutations (activating mutation).

JMC is extremely rare, and as of 2007 there are fewer than 20 reported cases worldwide. There are only 2 known families, from Dubai and Texas, in which the disease was passed from mother to daughter (Texas), and from a mother to her 2 sons (Dubai).[1]

Presentation

Blood levels of

Hypercalcemia (elevated levels of calcium in the blood) and hypophosphatemia
(reduced blood levels of phosphate), and elevated urinary calcium and phosphate, are generally found in JMC. The absence of hypercalcemia does not eliminate the disease from consideration.

Physical irregularities often associated with Jansen's include: prominent or protruding eyes, a

renal interstitium
) is seen commonly as well.

Cause

Jansen's metaphyseal chondrodysplasia is caused by a mutation in the

autosomal dominant.[2]

Diagnosis

Diagnosis typically occurs during infancy or early childhood and is based around physical characteristics and symptoms.

metaphyses of the limb bones. Tests that detect hypercalciuria and hypercalcaemia are also helpful in the diagnosis.[2]

Treatment

There is no known treatment at present, although some investigators have tried to lessen the hypercalcemia with various forms of

bisphosphonates
.

Eponym

It is named for Murk Jansen (1867–1935), a Dutch orthopedic surgeon.[3][4]

References

  1. ^ Luxner, Larry (20 August 2019). "Nebraska's Neena Nizar Seeks Cure for Jansen's, One of World's Rarest Diseases". Huntington Disease News. Retrieved 16 December 2020.
  2. ^ a b "Jansen Type Metaphyseal Chondrodysplasia - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-03-16.
  3. ^ Jansen, M. Ueber atypische Chondrodystrophie (Achondroplasie) und ueber eine noch nicht beschriebene angeborene Wachstumsstoerung des Knochensystems: Metaphysaere Dysostosis. Z. Orthop. Chir. 61: 253-286, 1934.
  4. S2CID 23466423
    .

Further reading

External links

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