نتایج جستجو برای: hypophosphatasia
تعداد نتایج: 591 فیلتر نتایج به سال:
Rathbun (1948) first described the syndrome of hypophosphatasia as a definite entity, although previous authors had described patients now thought to be examples of this syndrome. This disorder has also been called rickets with deficiency of alkaline phosphatase (Sobel, Clark, Fox and Robinow, 1953; Schlesinger, Luder and Bodian, 1955) and osteodysmetamorphosis foetalis (Engfeldt and Zetterstro...
Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The prevalence of severe forms of the disease has been estimated at 1/100 000. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early loss of teeth without bo...
Hypophosphatasia (HPP) is a rare genetic disorder characterized by impaired mineralization (calcification of bones and teeth). The signs symptoms HPP vary widely can appear from birth to adulthood. We report case delayed bone fracture healing in the setting hypophosphatasia. A 48-year-old male patient with past medical history vitamin D deficiency was seen outpatient clinic for low ALP levels. ...
Hypophosphatasia is a clinically heterogeneous inheritable disorder characterized by defective bone mineralization and the deficiency of serum and tissue liver/bone/kidney alkaline phosphatase activities. Due to the mineralization defect of the bones, various skeletal findings can be radiologically observed in hypophosphatasia. Bowing and Bowdler spurs of long bones are the characteristic findi...
Six subjects (three female, three male; age range 38-85 years) with adult onset hypophosphatasia are described. Three presented atypically with calcific periarthritis (due to apatite) in the absence of osteopenia; two had classical presentation with osteopenic fracture; and one was the asymptomatic father of one of the patients with calcific periarthritis. All three subjects over age 70 had iso...
Hypophosphatasia is an inherited disorder of bone, which is thought to be transmitted by a recessive gene. The homozygous form of the disease presents with a well-defined clinical picture and two biochemical abnormalities: lowered serum alkaline phosphatase and excessive urinary excretion of ethanolamine phosphate (EAP). Heterozygous carriers are usually not manifest clinically, but it has been...
Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a 25-year-old female who came for an anomaly scan in her second trimester of pregnancy. Additional findings of generalized demineralization and ost...
BACKGROUND Hypophosphatasia results from mutations in the gene for the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Inorganic pyrophosphate accumulates extracellularly, leading to rickets or osteomalacia. Severely affected babies often die from respiratory insufficiency due to progressive chest deformity or have persistent bone disease. There is no approved medical therapy. ENB-...
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. Clinical severity is variable, ranging from death in utero (due to severe rickets) to pathologic fractures first presenting in adult life. Affected siblings, however, are phenotypically similar. Severe forms of...
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