Hypophosphatasia is an inherited disorder of defect in alkaline phosphatase coding gene that affects the development of bones and teeth because mineralization is disrupted. It was described initially by Rathbun in 1948. Hypophsphatasia has got varied presentation. The symptoms can appear anywhere from before birth to adulthood Severe forms of hypophosphatasia affect an estimated 1 […]
Metabolic DIsorders Affecting Bone
Hypophosphatemic Rickets
Hypophosphatemic rickets is a hereditary form of rickets characterized by low serum phosphate levels and resistance to treatment with ultraviolet radiation or vitamin D ingestion. This disorder was initially called vitamin D resistant rickets, is now called hereditary hypophosphatemic rickets because the primary problem is phosphate wasting rather than true vitamin D resistance. [Read in […]
Renal Rickets
Renal rickets is the term used for rickets where the primary cause is not vitamin D deficiency but a renal disease leading to events that cause rickets or osteomalacia. [More about rickets] [More on Osteomalacia] Renal rickets is known by various names. Renal dwarfism, renal pseudorickets, and renal osteitis fibrosa cystica are forms of renal-caused […]
Rickets Causes and Treatment
Rickets is a condition where there is a defect in mineralization of the osteoid matrix caused by inadequate calcium and phosphate. If the defect occurs before the closure of the physis, it is known as rickets. The same defect when occurs after physeal closure is called osteomalacia Rickets or rachitis is a disease of infancy and […]
Tertiary Hyperparathyroidism Presentation and Treatment
What is Tertiary Hyperparathyroidism? Tertiary hyperparathyroidism is state of hyperparathyroidism characterized by excessive secretion of parathyroid hormone after long-standing secondary hyperparathyroidism , even after the correction of cause of hyperparathyroidism . The term is also used in patients who have undergone kidney transplants but their parathyroid function does not return to normal. The cause is […]
Secondary Hyperparathyroidism Causes, Symptoms and Treatment
What is Secondary Hyperparathyroidism? Secondary hyperparathyroidism is the overproduction of parathyroid hormone secondary to a chronic abnormal stimulus for its production. In contrast to primary hyperparathyroidism, the parathyroid glands are not abnormal. In contrast, the primary hyperparathyroidism is due to unregulated secretion of parathyroid hormone and is not in response to any stimuli. But secondary […]
Primary Hyperparathyroidism – Symptoms and Treatment
Primary hyperparathyroidism is state of high levels of parathyroid hormone due to unregulated overproduction of parathyroid hormone. It is also known by the names osteitis fibrosa cystica, von Recklinghausen’s disease and parathyrotoxicosis. Physiology of Parathyroid Hormone Parathyroid hormone plays an important role in metabolism of calcium and hyperparathyroidism results in abnormal calcium homeostasis. Parathryoid hormone […]
Paget Disease Symptoms, Diagnosis & Treatment
Paget disease of bone was first described by James in 1877 who described it as chronic inflammation of the bone and called it osteitis deformans. The term osteitis deformans is now considered technically incorrect, and the preferred term is osteodystrophia deformans. Paget disease is a localized disorder of bone remodeling that typically begins with excessive […]
Osteomalacia Causes and Treatment
Osteomalacia is a metabolic bone disease where defective mineralization results in bone soften due to a large amount of unmineralized osteoid. Osteomalacia (mollities ossium) is characterized by softening of the bones because of an accumulation of osteoid tissue.Osteoid is the bone matrix which is mineralized to form bone. Like rickets, osteomalacia also affects mineralization of […]
What Is Ochronosis?
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 […]