Vitamin-D-resistant Osteomalacia

Jackson, W. P. U.; Dowdle, Eugene B.; Linder, G. C.

doi:10.1136/bmj.1.5082.1269

Cited by 17 publications

(3 citation statements)

References 11 publications

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“…The lamina dura may be especially thin in individuals with long-standing or severe osteomalacia. The teeth are not altered in this condition in as much as they are fully developed before the onset of osteomalacia[ 49 50 51 ] [ Figure 4 ].…”

Section: R Adiological M Anifestations Omentioning

confidence: 99%

Vitamin D deficiency in adolescents

Soliman¹,

Sanctis²,

Elalaily³

et al. 2014

Indian J Endocr Metab

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The prevalence of severe vitamin D deficiency (VDD) in adolescents is variable but considerably high in many countries, especially in Middle-east and Southeast Asia. Different factors attribute to this deficiency including lack of sunlight exposure due to cultural dress codes and veiling or due to pigmented skin, and less time spent outdoors, because of hot weather, and lower vitamin D intake. A potent adaptation process significantly modifies the clinical presentation and therefore clinical presentations may be subtle and go unnoticed, thus making true prevalence studies difficult. Adolescents with severe VDD may present with vague manifestations including pain in weight-bearing joints, back, thighs and/or calves, difficulty in walking and/or climbing stairs, or running and muscle cramps. Adaptation includes increased parathormone (PTH) and deceased insulin-like growth factor-I (IGF-I) secretion. PTH enhances the tubular reabsorption of Ca and stimulates the kidneys to produce 1, 25-(OH) 2D3 that increases intestinal calcium absorption and dissolves the mineralized collagen matrix in bone, causing osteopenia and osteoporosis to provide enough Ca to prevent hypocalcaemia. Decreased insulin like growth factor-I (IGF-I) delays bone growth to economize calcium consumption. Radiological changes are not uncommon and include osteoporosis/osteopenia affecting long bones as well as vertebrae and ribs, bone cysts, decalcification of the metaphysis of the long bones and pseudo fractures. In severe cases pathological fractures and deformities may occur. Vitamin D treatment of adolescents with VDD differs considerably in different studies and proved to be effective in treating all clinical, biochemical, and radiological manifestations. Different treatment regiments for VDD have been discussed and presented in this mini-review for practical use. Adequate vitamin D replacement after treating VDD, improving calcium intake (milk and dairy products), encouraging adequate exposure to the sun and possible enrichment of the stable food with vitamin D in areas with high prevalence of VDD are important measures to prevent the harmful consequences of VDD.

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Section: R Adiological M Anifestations Omentioning

confidence: 99%

Vitamin D deficiency in adolescents

Soliman¹,

Sanctis²,

Elalaily³

et al. 2014

Indian J Endocr Metab

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“…A primary disorder of intestinal phosphate absorption has, however, never been conclusively shown in hypophosphataemic rickets or osteomalacia, though there is a raised faecal phosphate (Albright et al, 1937;Robertson et al, 1942;Fanconi and Girardet, 1952;Jackson et al, 1958;Nordin and Smith, 1967). The latter is, however, t Deoartment of Biochemistry, Royal National Orthopaedic Hospital, London W.I.…”

Section: Introductionmentioning

confidence: 99%

Defective Intestinal Phosphate Absorption in Familial and Non-familial Hypophosphataemia

Condon¹,

Nassim²,

Rutter³

1970

BMJ

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“…29 Fractures most often occur in weight-bearing bones such as the femur, with 44% of patients reporting a fracture with a mean age of 26.4. 18 Overall, patients' quality of life is hindered. In the studies by Skrinar, most patients tested lower in quality of life measurements compared to the US general population, with pain and decreased physical function being the main drivers of these lower measurements.…”

Section: Potential Sequelae Of Untreated Xlhmentioning

confidence: 99%

X-Linked Hypophosphatemia

Barag¹,

Raja

Shieh

2023

JOFPCA

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Linked Hypophosphatemia (XLH) is a genetic disorder that affects the bones and teeth, primarily characterized by low levels of phosphate in the blood. XLH is a rare disorder but is considered the most common inherited form of rickets. The clinical presentation of XLH varies widely with the most common symptoms of XLH being short stature, bowing of the legs, and dental defects. Diagnosis of XLH is typically made through clinical evaluation and genetic testing. Treatment options include monoclonal antibody therapy, oral phosphates, and bisphosphonates. This article will discuss the general clinical presentation of XLH, including the common symptoms and signs, the age of onset, diagnosis and treatment options, and the importance of primary care physician screening.

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Vitamin-D-resistant Osteomalacia

Cited by 17 publications

References 11 publications

Vitamin D deficiency in adolescents

Vitamin D deficiency in adolescents

Defective Intestinal Phosphate Absorption in Familial and Non-familial Hypophosphataemia

X-Linked Hypophosphatemia

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