Rickets Resistant to Vitamin D Therapy

Albright, Fuller; Butler, Allan M.; Bloomberg, Esther

doi:10.1001/archpedi.1937.01980030073005

Cited by 202 publications

(132 citation statements)

References 16 publications

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“…We determined a mutation to be disease causing: (1) when the mutation was previously described in the PHEXdb (accessed April, 2012) or characterised in publications, but not yet appearing in the PHEXdb; [20][21][22][23] (2) when the mutation identified was present in all family members with clinically and biochemically verified HR, but not in any of the asymptomatic family members; and/or (3) when the mutation type was predicted to cause a nonfunctional protein as frameshift, deletion, duplication, nonsense or abnormal splicing. Missense mutations were initially tested by the prediction software PolyPhen ('polymorphism phenotyping' , http://genetics.bwh.harvard.edu/pph/) and SIFT ('sorting intolerant from tolerant' , http://sift.jcvi.org/) to predict the impact of missense mutations on protein structure and function based on sequence alignments.…”

Section: Genetic Analysismentioning

confidence: 99%

“…1 The first description of the disease was by Albright in 1937. 2 Characteristically, children present during the first 1-2 years of age with bowing of the weight-bearing extremities and growth failure. With increasing age, many patients experience painful joints, arthrosis, enthesopaties (calcification of ligaments and their attachment to bone) and recurrent spontaneous abscesses of the teeth.…”

Section: Introductionmentioning

confidence: 99%

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Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets

et al. 2012

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This study aimed to identify the underlying genetic mutation in patients with hypophosphatemic rickets (HR). Genomic DNA was analysed for mutations in PHEX, FGF23 and CLCN5 by polymerase chain reaction (PCR) followed by denaturing highperformance liquid chromatography (dHPLC). Bi-directional sequencing was performed in samples with deviating chromatographic profiles. DMP1 and SLC34A3 were sequenced, only. In addition, a multiplex ligation-dependent probe amplification (MLPA) analysis was performed to detect larger deletions/duplications in PHEX or FGF23. Familial cases accounted for 12 probands while 12 cases were sporadic. In 20 probands, mutations were detected in PHEX of which 12 were novel, and one novel frameshift mutation was found in DMP1. Three PHEX mutations were identified by the MLPA analysis only; that is, two large deletions and one duplication. No mutations were identified in FGF23, SLC34A3 or CLCN5. By the methods used, a disease causing mutation was identified in 83% of the familial and 92% of the sporadic cases, thereby in 88% of the tested probands. Genetic analysis performed in HR patients by PCR, dHPLC, sequencing and in addition by MLPA analysis revealed a high identification rate of gene mutations causing HR, including 12 novel PHEX and one novel DMP1 mutation.

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Section: Genetic Analysismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets

et al. 2012

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“…Clinical features, presenting with beginning of walking, include short stature, reduced growth rate, and bone deformity, such as coxa vara, femoral and crural bowing, and genua vara and valga [1][2][3] (Fig. 1a-c).…”

Section: Introductionmentioning

confidence: 99%

Metabolic and orthopedic management of X-linked vitamin D-resistant hypophosphatemic rickets

Fucentese

Neuhaus

Ramseier

et al. 2008

Journal of Children's Orthopaedics

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Purpose Therapy of vitamin D-resistant hypophosphatemic rickets (VDXLR) consists of oral phosphate and vitamin D supplements. Bone deformities, pain, and small stature can occur even in children with good compliance, requiring surgical correction and bone lengthening. However, only few surgical reports are available. Methods Twelve patients (three males) with VDXLR were followed at our institution. Median age at diagnosis was 3 9/12 years (range, birth to 11 10/12) with a follow-up period of 7 8/12 years (1 9/12-30) and age at last follow-up of 13 6/12 years (2-30). Eight patients underwent surgical correction, three of them in combination with bone lengthening. The corrections were performed at the end of growth in three patients. Clinical endpoints were height, leg axis, and pain. Results Single bilateral surgical correction was performed in six patients; one patient each had three and five corrections. Bone lengthening was performed in three patients. At last follow-up, the height of seven operated patients was within normal range. In addition, leg axis was normalized in six patients with mild genua vara in two. Only one patient complained of intermittent pain. Bone healing was excellent; surgical complications were rare. There was no radiological evidence of degenerative arthropathy.Conclusions Medical treatment remains the main pillar of therapy in children with VDXLR. In case of bone deformity, surgery can safely be performed, independent of age or bone maturation. All patients were satisfied with the results of axial corrective surgery and bone lengthening, and in the majority only one corrective intervention was needed.

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“…X-Linked Hypophosphatemic Rickets X-linked hypophosphatemic rickets (XLH) is the most common type of rickets in the world with the frequency of 1:20 000 live births. 7 This disorder was first described by Albright et al 8 In adults, symptoms include osteomalacia, pain in joints and even dental disease. In the intensive form of hypophosphatemia, defects in mineralization of the bones can be observed, and patients with no family history of XLH mostly have leg deformities.…”

Section: Methodsmentioning

confidence: 99%

Molecular and Biochemical Aspects of Hypophosphatemic Rickets; an Updated Review

Manjili¹,

Aliabad²,

Kalantar³

et al. 2017

Int J Basic Sci Med

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Rickets Resistant to Vitamin D Therapy

Cited by 202 publications

References 16 publications

Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets

Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets

Metabolic and orthopedic management of X-linked vitamin D-resistant hypophosphatemic rickets

Molecular and Biochemical Aspects of Hypophosphatemic Rickets; an Updated Review

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