Oral Phosphates in Vitamin-D-Refractory Rickets and Osteomalacia

Smith, Rosamund C.; Fleming, Jacqueline; Manson, Gordon

doi:10.1001/archpedi.1963.02080050149005

Cited by 8 publications

(2 citation statements)

References 6 publications

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“…Early efforts to treat patients with hypophosphatemic rickets and osteomalacia focused on the application of high doses of vitamin D, which carried a risk for vitamin D toxicity. Frame and Smith noted that adult patients with acquired hypophosphatemic osteomalacia could improve using phosphate salts [124]; in children, the rickets could also be refractory to oral phosphate salts [125]. Given the limited response to vitamin D, Stickler et al [126] tried to treat familial hypophosphatemic rickets by increasing the calcium-phosphate product through increasing intake of phosphate and calcium (on alternating days to ensure absorption), without vitamin D. However, this approach also proved unsuccessful, and they concluded that, at least to some degree, gastrointestinal absorption was also impaired.…”

Section: Phosphate Disorders and Fgf23mentioning

confidence: 99%

Rickets, Vitamin D, and Ca/P Metabolism

Miller¹,

Imel²

2022

Horm Res Paediatr

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Rickets was a major public health problem dating from Roman times, and medical descriptions of rickets date from the 17th century. Sniadecki first advocated treatment by exposure to sunshine in 1822; contemporaneously, several British physicians advocated use of cod liver oil. Both approaches were successful. Work in 1924 showed that exposure to UV light endowed fats and other foods with antirachitic properties. Vitamins D2 and D3, the antirachitic agent in cod liver oil, were, respectively, produced by UV radiation of ergosterol and 7-dehydrocholesterol. Calcitriol (1,25[OH]2D3) was identified as the biologically active form of vitamin D in the early 1970s. The vitamin D 25-hydroxylase, 24-hydroxylase, and 1α-hydroxylase were cloned in the 1990s and their genetic defects were soon delineated. The vitamin D receptor was also cloned and its mutations identified in vitamin D-resistant rickets. Work with parathyroid hormone (PTH) began much later, as the parathyroids were not identified until the late 19th century. In 1925, James B. Collip (of insulin fame) identified PTH by its ability to correct tetany in parathyroidectomized dogs, but only in the 1970s was it clear that only a small fragment of PTH conveyed its activity. Congenital hypoparathyroidism with immune defects was described in 1968, eventually linked to microdeletions in chromosome 22q11.2. X-linked hypophosphatemic rickets was reported in 1957, and genetic linkage analysis identified the causative PHEX gene in 1997. Autosomal dominant hypophosphatemic rickets similarly led to the discovery of FGF23, a phosphate-wasting humoral factor made in bone, in 2000, revolutionizing our understanding of phosphorus metabolism.

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Section: Phosphate Disorders and Fgf23mentioning

confidence: 99%

Rickets, Vitamin D, and Ca/P Metabolism

Miller¹,

Imel²

2022

Horm Res Paediatr

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“…[4][5][6] Thus, it seemed reasonable to attempt control of the bone process by giving increased oral intakes of both calcium and phosphate without the addition of high doses of vitamin D. The purpose of this study was to assess the effects of these increased intakes.…”

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confidence: 99%

Familial Hypophosphatemic Vitamin D Resistant Rickets

Stickler¹,

Hayles²,

Rosevear³

1965

Am J Dis Child

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Severe Familial Hypophosphatemic Rickets

Schoen¹,

Reynolds²

1970

Am J Dis Child

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In 1966, one of us (E.J.S.) reported the case of a 19-month-old boy in whom familial hypophosphatemic vitamin D resistant rickets (VDRR) was diagnosed on the first day of life.1 Starting at age 3 months, when his disease was demonstrated to be severe, he received vitamin D in therapeutic doses. Normal growth ensued; at 19 months the child'sheight was near the 50th percentile, and leg-to-torso ratio was normal.We were unable to discover other instances in which VDRR was diagnosed and treated before crawling initiates weightbearing at about age 6 months. We therefore recommended that attempts be made to identify and treat infants with VDRR within the first few months of life in order to learn whether deformity and shortness of the legs could be prevented by early treatment. In the present paper, we are summarizing the progress of our patient to age 5 years 8 months. The favorable outcome in this case is compared with the

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Oral Phosphates in Vitamin-D-Refractory Rickets and Osteomalacia

Cited by 8 publications

References 6 publications

Rickets, Vitamin D, and Ca/P Metabolism

Rickets, Vitamin D, and Ca/P Metabolism

Familial Hypophosphatemic Vitamin D Resistant Rickets

Severe Familial Hypophosphatemic Rickets

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