Growth in familial hypophosphatemic vitamin D—resistant rickets

McNair, Susan L.; Stickler, Gunnar B.

doi:10.1016/s0022-3476(69)80172-1

Cited by 5 publications

(4 citation statements)

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“…In contrast, many of the patients with late diagnosis presented with some degree of growth deficit (median height z-score, Ϫ1.7 SDS), and all had moderate to severe radiographic evidence of rickets. Based on previous reports of normal length at birth and progressive growth retardation during the first years of life in untreated children with XLH (9,10,22,23), it is likely that the difference in median height between our two groups at treatment onset was due to the prolonged period of pretreatment growth disturbance in late treated subjects rather than to any inherent difference in the two groups. The growth response during the first treatment year was unsatisfactory in most cases.…”

Section: Discussionmentioning

confidence: 82%

“…The impact of the treatment on growth and final adult height remains controversial; some studies have shown improved final heights, but in others no such beneficial effect has been observed (5,7,10,21). Children with XLH have normal length at birth and show increasing growth retardation during the first years of life (9,10,22,23). As the pubertal growth spurt in patients with XLH appears to be normal (10,24), it is probable that most of the height deficit in treated patients results from the height loss before diagnosis and treatment onset.…”

Section: Discussionmentioning

confidence: 99%

“…However, despite improved blood biochemistry, the growth response may be unsatisfactory, and some patients remain unresponsive (4,8). In XLH significant deceleration of growth occurs during the first 2 yr of life when, before the diagnosis and onset of treatment, affected children develop skeletal signs of rickets (9,10). Therefore, initiation of treatment during early infancy, before overt manifestation of rickets and growth retardation, would be expected to result in improved height gain compared with the effect of treatment commenced at a later time.…”

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confidence: 99%

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Early Treatment Improves Growth and Biochemical and Radiographic Outcome in X-Linked Hypophosphatemic Rickets

Mäkitie¹,

Doria²,

Kooh³

et al. 2003

The Journal of Clinical Endocrinology &Amp; Metabolism

181

142

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X-Linked hypophosphatemic rickets (XLH) is characterized by hypophosphatemia, rickets, and impaired growth. Despite oral phosphate and 1,25-dihydroxyvitamin D(3) treatment, many patients have suboptimal growth and bone healing. The aim of this study was to assess whether age at treatment onset impacts the outcome. Growth data, biochemistry, and radiographs of 19 well-controlled patients with XLH were analyzed retrospectively. Patients were divided into two groups based on the age at treatment onset (group 1, <1.0 yr; group 2, >or=1.0 yr). The median height z-score was higher in group 1 (n = 8) than in group 2 (n = 11) at treatment onset [-0.4 SD score (SDS) vs. -1.7 SDS; P = 0.001], at the end of the first treatment year (-0.7 SDS vs. -1.8 SDS; P = 0.009), throughout childhood (P > 0.05) and until predicted adult height (-0.2 SDS vs. -1.2 SDS; P = 0.06). The degree of hypophosphatemia was similar in both groups, but serum alkaline phosphatase remained higher in group 2 throughout childhood. Radiographic signs of rickets were more marked in group 2, but even patients with early treatment developed significant skeletal changes of rickets. These data suggest that treatment commenced in early infancy results in improved outcome in patients with XLH, but does not completely normalize skeletal development.

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Section: Discussionmentioning

confidence: 82%

Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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Early Treatment Improves Growth and Biochemical and Radiographic Outcome in X-Linked Hypophosphatemic Rickets

Mäkitie¹,

Doria²,

Kooh³

et al. 2003

The Journal of Clinical Endocrinology &Amp; Metabolism

181

142

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“…Among the 91 journal articles, there were 40 case study publications (which described a total of 56 adults with XLH), 32 research articles (including 17 cohort studies, 13 cross-sectional studies and two clinical trials; reported sample sizes ranged from 2 to 134 adults with XLH) and 19 review articles. Quality of evidence from the non-clinical trial research studies was rated as good, satisfactory and poor for 6 [ 17 – 22 ], 14 [ 10 , 11 , 23 – 34 ] and 10 [ 35 – 44 ] studies, respectively. Of the 44 conference abstracts, 13 described case studies (which included 12 adults with XLH not described in the journal articles), 27 described research studies (reported sample sizes ranged from 5 to 195 adults with XLH) and four were reviews.…”

Section: Resultsmentioning

confidence: 99%

Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review

et al. 2020

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Summary This systematic review collated evidence on the burden of XLH in adults. Data captured highlight the substantial ongoing burden of XLH in adulthood and identified unmet needs. Greater awareness and understanding of the impact of XLH in adulthood are needed to improve care and outcomes in adults with XLH. Introduction X-linked hypophosphataemia (XLH) is a rare metabolic bone disease characterized by renal phosphate wasting and musculoskeletal manifestations. Whilst the disease’s impact in children is well documented, information on the effects of this progressive, debilitating condition on adults is lacking. This systematic review aimed to collate existing evidence on the burden of XLH in adulthood to identify unmet needs. Methods MEDLINE, Embase and Cochrane Library databases and recent congress reports were searched on 19 February 2019 for English-language publications describing the medical, humanistic and socio-economic impact of XLH in adults (≥ 18 years old). In addition, a structured Internet search was conducted. Results Of the 2351 articles identified, 91 met the selection criteria along with 44 congress abstracts. Data show that adults with XLH experience a range of clinical manifestations, particularly skeletal deformities and (pseudo)fractures, along with pain, dental abnormalities and impaired physical function and mobility. XLH in adulthood impacts on quality of life and places limitations on daily activities. The level of healthcare resource utilization among adults with XLH is indicative of substantial socio-economic burden; further research is needed to quantitate the economic impact on the healthcare system, society and patients. Adults with XLH may not receive appropriate care and treatment; a possible explanation for this is a lack of awareness among healthcare professionals. Conclusion XLH in adults is associated with considerable disease burden and unmet needs. Forthcoming studies and increased awareness of the impact of XLH in adulthood should help to improve management of XLH in adulthood and patient outcomes. Electronic supplementary material The online version of this article (10.1007/s00198-020-05548-0) contains supplementary material, which is available to authorized users.

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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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Growth in familial hypophosphatemic vitamin D—resistant rickets

Cited by 5 publications

References 0 publications

Early Treatment Improves Growth and Biochemical and Radiographic Outcome in X-Linked Hypophosphatemic Rickets

Early Treatment Improves Growth and Biochemical and Radiographic Outcome in X-Linked Hypophosphatemic Rickets

Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review

Severe Familial Hypophosphatemic Rickets

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