Acceleration of growth with combined vitamin D-phosphate therapy of hypophosphatemic resistant rickets

McEnery, Paul T.; Silverman, Frederic N.; West, Clark D.

doi:10.1016/s0022-3476(72)80128-8

Cited by 33 publications

(6 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…More than 30 studies have been published to date on the efficacy of either vitamin D or phosphate therapy, alone or in combination, in patients with XLHR. Beneficial effects on growth, however, have been more controversial, with some studies reporting a positive effect [9][10][11][12][13][14][15][16][17][18][19][20] and others not [21][22][23][24]. The remaining studies report on the effects of treatment on bone histology, mineral imbalances, and radiographic changes.…”

mentioning

confidence: 99%

Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment

et al. 2011

View full text Add to dashboard Cite

Inactivating mutations in phosphate-regulating endopeptidase (PHEX) cause X-linked hypophosphatemic rickets (XLHR) characterized by phosphaturia, hypophosphatemia, bony deformities, and growth retardation. We assessed the efficacy of combined calcitriol and orally administered phosphate (Pi) therapy on longitudinal growth in relation to age at treatment onset in a retrospective, single-center review of children with XLHR and documented PHEX mutations. Growth was compared in those who started treatment before (G1; N = 10; six boys) and after (G2; N = 13; five boys) 1 year old. Median height standard deviation score (HSDS) at treatment onset was normal in G1: 0.1 [interquartile range (IR) -1.3 to 0.4) and significantly (p = 0.004) lower in G2 (IR -2.1 (-2.8 to -1.4). Treatment duration was similar [G1 8.5 (4.0-15.2) vs G2 11.9 (6.2-14.3) years; p = 0.56], as were prescribed phosphate and calcitriol doses. Recent HSDS was significantly (p = 0.009) better in G1 [-0.7 (-1.5 to 0.3)] vs G2 [-2.0 (-2.3 to -1.0)]. No effects of gender or genotype on growth could be identified. Children with PHEX-associated XLHR benefit from early treatment and can achieve normal growth. Minimal catchup growth was seen in those who started treatment later. Our findings emphasize the importance of early diagnosis to allow treatment before growth has been compromised.

show abstract

mentioning

confidence: 99%

Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment

et al. 2011

View full text Add to dashboard Cite

show abstract

“…The mean treatment time was 8-4 years (range 1-15), and the mean length of treatment during the growth period was 6-8 years (range[1][2][3][4][5][6][7][8][9][10][11][12][13][14].…”

mentioning

confidence: 99%

X linked hypophosphataemia: treatment, height gain, and nephrocalcinosis.

Reusz¹,

Hoyer²,

Lucas³

et al. 1990

Archives of Disease in Childhood

View full text Add to dashboard Cite

The clinical data of 18 patients with X linked hypophosphataemia were analysed retrospectively. The height data were expressed as SD scores. There was no difference in the final height of patients treated with vitamin D (or 1,25-dihydroxyvitamin D) and phosphate for at least two years (n= 12) and that of 16 hypophosphataemic family members who had never been treated. The mean final SD score (-2.07) of treated patients, however, was significantly higher than the value before treatment (-2.79), which indicated an average absolute height gain of 4-4.5 cm compared with the expected height values. Six of the treated patients developed ultrasonographicaily detectable nephrocalcinosis with normal renal function. The daily phosphate intake and excretion of patients with nephrocalcinosis was significantly higher than that of patients with normal renal morphology. There was no difference in the doses of vitamin D between the two groups. The average urinary calcium:creatinine ratio of the two groups was similar to and below the hypercalciuric 0-6 mmol:mmol limit. The group with nephrocalcinosis, however, had a higher incidence of hypercalciuric episodes than the group without nephrocalcinosis (12 in 130 observations compared with six in 334 observations, respectively). The benefits and risks of treatment of patients with X linked hypophosphataemia must be further evaluated. The high dose of phosphate seems to be an important factor in the development of nephrocalcinosis in this group of patients. The aim of the present study was to analyse the effects of the combined treatment with vitamin D and phosphate on the growth of patients with X linked hypophosphataemia, to find out the incidence of ultrasonographic renal calcification,'8 and to elucidate the role of the treatment in renal calcification.Patients and methods Between 1974 and 1989, 18 patients with X linked hypophosphataemia were treated with combined vitamin D (or 1,25-DHVD) and oral phosphate in our clinic.22 Sixteen adult hypophosphataemic relatives who had not been treated during the growth period served as controls.All treated patients were diagnosed by the presence of rachitic bone changes, the persistence of hypophosphataemia, relative hyperphosphaturia, normocalcaemia, high alkaline phosphatase activity, and normal serum concentrations of parathyroid hormone.5 22 X linked dominant inheritance was confirmed by analysis of the pedigrees.All patients visited our outpatient clinic at regular intervals: infants and young children every three weeks to two months and adolescents and young adults every three to six months depending on the intensity of treatment. Urinary excretion of calcium and phosphate, serum calcium and phosphate concentrations, and creatinine clearance were measured routinely. Calcium, phosphate, and creatinine were estimated by routine laboratory methods.Hypercalcaemia

show abstract

“…T. C. B. Stamp comments: Many workers have reported satisfactory long-term control of hypophosphataemic rickets with combinations of vitamin D and a phosphate supplement (West et al, 1964;Stickler, Hayles, and Rosevear, 1965;Wilson et al, 1965;Glorieux et al, 1972;McEnery, Silverman, and West, 1972). The convenient commercial preparation advocated by Dr. Koepp was used by us in one of our cases.…”

Section: Treatment Of Hereditary Hypophosphataemic Ricketsmentioning

confidence: 86%