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Metabolic DIsorders Affecting Bone

Study Finds Hyperparathyroidism Most Common Cause of Raised Calcium Levels in Blood

February 23, 2013 by Leave a Comment

Hyperparathyroidism is high levels of parathyroid hormone and occurs because of overactive parathyroid glands.

A new study published in Journal of Clinical Endocrinology and Metabolism has reported that unusually high calcium levels in the blood can almost always be traced to primary hyperparathyroidism.

The study by Yeh and colleagues is the first to examine a large, racially and ethnically diverse population.

The condition is said to be undertreated and  underreported.

The researchers discovered that the condition is most often seen in African American women over the age of 50.

Bone loss, depression and fatigue that may go undetected for years, is most common findings in this condition. [Read more...]

Filed Under: Metabolic Diseases, News Tagged With: , ,

Progress Made Towards Treatment of X-linked Hypophosphataemia

February 22, 2013 by Leave a Comment

X-linked hypophosphataemia per se is a rare disease though it is most common form of heritable rickets.

[Rickets is a condition in which in which soft bones bend and deform as a result of poor calcification of growing bones.

Researchers at McGill University and the Federal University of Sao Paulo have identified that osteopontin plays a role in X-liked hypophosphataemia, a discovery may pave the way to effectively treating this rare disease.

The results of this latest research by Drs. McKee and Barros will be published in the March issue of the Journal of Bone and Mineral Research.

It was known from previous research that a mutation in PHEX gene was responsible for the X-linked hypophosphataemia. PHEX enzymatic activity leads to an essentially complete degradation of osteopontin in bones.

[PHEX gene regulates the expression of Phosphate-regulating neutral endopeptidase also known as X-linked hypophosphatemia protein (HYP) or metalloendopeptidase. The gene is located on the X chromosome.] [Read more...]

Filed Under: Basics, Metabolic Diseases, News Tagged With: ,

Xray Of Bilateral Fracture Neck Of Femur With Deformed Pelvis In Osteomalacia

January 17, 2012 by Leave a Comment

48 years, mother of five presented to out patient department with inability to walk and pains in all body for past five days. On further probing generalised body pains were present for about a Bilatreral hips were tender on examination.

Xray revealed fracture of neck of femur bilaterally and a deformed pelvis suggesting osteomalacia.

Fracture Neck femur in osteomalacia

Bilateral Fracture Neck femur in osteomalacia

Osteomalacia is a condition that occurs due to Vit D deficiency in adult [ In children the counterpart is rickets].

Osteomalcia leads to softening of bones and pseudofractures in regions like neck of femur, pubic rami etc which may on go to form complete fracture.

This patient was advised surgery [closed/open reduction+fixation] for both the neck of femur fracture but she refused any kind of surgical intervention.

Filed Under: Hip Injuries, Images, Metabolic Diseases, Radiology Tagged With: , , , ,

What Is Ochronosis?

September 9, 2011 by Leave a Comment

The term Ochronosis was coined by Virchow who described yellow hue of cartilage [Ochre- yellow] under the microscope.

Ochronosis is the bluish black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen primarily with alkaptonuria, a metabolic disorder.

Ochronosis can sometimes occur from exposure to substances like

  • Phenol
  • Trinitrophenol
  • Resorcinol
  • Mercury
  • Picric acid
  • Benzene
  • Hydroquinone
  • Antimalarials.

Alkaptonuria  causes accummulation and deposition of homogentisic acid  cartilage and resulting in causing the characteristic diffuse bluish black pigmentation. The accumulation of homogentisic acid inhibits collagen cross-linking by affecting a crucial enzyme in collagen synthesis, leading to a diminution of structural collagen integrity [Read more...]

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