9.6 mg/dL, serum phosphate: 1.8mg/dL; alkaline phosphatase: 982 U/L. Acid load test was negative. TMP/GFR: 0.5, Magnetic resonance imaging of the brain showed interdigitation of gyri in the right frontal lobe. X-ray showed changes of rickets. Biopsy of the skin lesion was suggestive of epidermal nevus. He was started on phosphate mixture Sanklecha M, Singhal S, et al. Hereditory spherocytosis: ...

Although the premature tooth exfoliation (PTE) can be associated with some systemic diseases such as changes in immune system or connective tissue disorders, we didn’t find any report on this disorder and hypophosphatemic rickets. In bone metabolic disorders, there are a few reports on hypophosphatasia and PTE[1-3]. Although, some factors such as severe oral infection can predispose PTE in HR p...

Rickets is associated with aberrant mineralization in growth plates leading to the deformity of bone structure. The two main types of rickets are phosphopenic and calcipenic rickets. Phosphopenic rickets is found in a variety of sorts; the most common is the X-linked dominant hypophosphatemic rickets (HR) caused by a mutation in PHEX gene. The FGF23, DMP1, and PHEX are among the most important ...

PURPOSE INTRODUCTION TO THE OPHTHALMIC LITERATURE OF AN UNUSUAL CAUSE OF PAPILLEDEMA AND SUBSEQUENT OPTIC ATROPHY: X-linked hypophosphatemic rickets (XLH). METHODS Case report of a 3-year-old female presenting with papilledema resulting from craniosynostosis secondary to XLH. RESULTS Early intervention with craniofacial surgery prevented the development of optic atrophy. CONCLUSION Childr...

The term “personalized medicine” appeared only 20 years ago, but individual approaches to the therapy were known for more than a hundred years. genome decoding and development of pharmacogenetics in recent decades have opened up new ways medicine understanding concept medicine”. article uses example nephrological diseases (Denis–Drash syndrome, Freiser hypophosphatemic rickets, nephrotic syndro...

Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) was originally reported as a responsible gene for generalized arterial calcification in infancy (GACI). Though the prognosis of GACI patients is poor because of myocardial infarction and heart failure in relation to medial calcification of the coronary arteries, some patients rescued by bisphosphonate treatment have been reported. Recen...

Phosphate homeostasis is controlled by a complex but poorly understood interplay of hormonal and non-hormonal mechanisms. In recent years, the identification of several genes for certain congenital forms of hypophosphatemic rickets has led to the emergence of a fascinating phosphate regulating system. We describe a patient with a rare form of hypophosphatemic rickets who carries a de novo, bala...

Introduction Vitamin D deficiency is the major cause of rickets and osteomalacia, bone diseases which lead to several deformities of the skeleton. This paper gives a review about skeletal evidence of both diseases in Europe. First, it is necessary to explain the main principles of vitamin D metabolism in order to understand causes and effects of vitamin D deficiency. These aspects are followed ...