Autism and X-linked hypophosphatemia: A possible association?
نویسندگان
چکیده
منابع مشابه
X-linked hypophosphatemia with enthesopathy.
Pal R, Bhansali A. BMJ Case Rep 2017. doi:10.1136/bcr-2017-220920 Description A 42-year-old man presented with lower limb bowing since childhood along with low backache and proximal muscle weakness for 8 years. He had strong family history of similar complaints in his elder brother, younger sister and daughter. Examination revealed loss of teeth and genu varum. Investigations showed corrected s...
متن کاملX-linked hypophosphatemia: dental and histologic findings.
The recurrent spontaneous formation of abscesses affecting multiple noncarious primary as well as permanent teeth is the principle clinical dental feature in cases of hypophosphatemia, a condition inherited through the X chromosome. Patients often have high pulp horns, large pulp chambers and dentinal clefts. We report a case of hypophosphatemic vitamin D-resistant rickets in a patient who repo...
متن کاملPathophysiology of X-linked hypophosphatemia, tumor-induced osteomalacia, and autosomal dominant hypophosphatemia: a perPHEXing problem.
Proximal tubular reabsorption of phosphate is a major determinant of the serum phosphate concentration (1). The presence of many disease states associated with renal phosphate wasting supports the existence of several distinct physiological regulators of renal phosphate transport. Primary and secondary hyperparathyroidism, as well as the hypercalcemia of malignancy syndrome, illustrate the impo...
متن کاملYALE CENTER FOR X-LINKED HYPOPHOSPHATEMIA Pilot & Feasibility Program A study of enthesopathy in X-linked hypophosphatemia
Dr. Macica states: “The formation of enthesophytes was our focus, with a major emphasis on characterizing the cellular changes that occur in enthesophyte formation using the murine model of XLH, Hyp mice. We have found that mineralization, while thought to originate from bone, is actually due to both an expansion of fibrocartilage cells that express the FGFR3 receptor and an increase in alkalin...
متن کاملDental management of patients with X-linked hypophosphatemia
X-linked hypophosphatemia (XLH) is a hereditary metabolic disease caused by the loss of phosphate through the renal tubules into the urine, and an associated decrease in serum calcium and potassium phosphate. Its dental features include spontaneous dental abscesses that occur in the absence of trauma or dental caries. The aim of this case report was to describe the dental problems of XLH patien...
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ژورنال
عنوان ژورنال: Indian Journal of Human Genetics
سال: 2010
ISSN: 0971-6866
DOI: 10.4103/0971-6866.64937