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In developed countries, rickets is a rare disease [62] (incidence of less than 1 in 200,000). Recently, cases of rickets have been reported among children who are not fed enough vitamin D. [63] In 2013/2014 there were fewer than 700 cases in England. [63] In 2019 the number of cases hospitalised was said to be the highest in 50 years. [64]
The impairment of bone metabolism causes inadequate bone mineralization. Osteomalacia in children is known as rickets, and because of this, use of the term "osteomalacia" is often restricted to the milder, adult form of the disease. Signs and symptoms can include diffuse body pains, muscle weakness, and fragility of the bones.
On the other hand, CKD-MBD is defined as a systemic disorder of mineral and bone metabolism due to CKD manifested by either one or a combination of the following: 1) abnormalities of calcium, phosphorus, PTH, or vitamin D metabolism; 2) abnormalities in bone turnover, mineralization, volume, linear growth, or strength (renal osteodystrophy ...
X-linked hypophosphatemia (XLH) is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of dietary deficiency rickets in that vitamin D supplementation does not cure it. It can cause bone deformity including short stature and genu varum (bow-leggedness).
Autosomal dominant hypophosphatemic rickets (ADHR) is a rare hereditary disease in which excessive loss of phosphate in the urine leads to poorly formed bones , bone pain, and tooth abscesses. ADHR is caused by a mutation in the fibroblast growth factor 23 (FGF23). ADHR affects men and women equally; symptoms may become apparent at any point ...
X-linked dominant hypophosphatemic rickets [307800: PHEX: Xp22.2-p22.1: XD: Growth retardation, rachitic and osteomalacic bone disease, hypophosphatemia, and renal defects in phosphate reabsorption and vitamin D metabolism: Plasma: ↓PO 4, ↑ALP; Urine: ↑PO 4: Loop of Henle: Bartter's syndrome: NKCC2 (type 1) 15q15-21.1: AR
Hypophosphatasia (/ ˌ h aɪ p oʊ ˈ f ɒ s f eɪ t ˌ eɪ ʒ ə /; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, [5] or Rathbun's syndrome; [1] sometimes abbreviated HPP [6]) is a rare, and sometimes fatal, inherited [7] metabolic bone disease. [8]
Rickets, a childhood disease characterized by impeded growth and deformity of the long bones. [9] The earliest sign of vitamin D deficiency is craniotabes, abnormal softening or thinning of the skull. [10] Osteomalacia, a bone-thinning disorder that occurs exclusively in adults and is characterized by proximal muscle weakness and bone fragility ...