Renal phosphate wasting disorders: clinical features and pathogenesis

Brame, Lori A.; White, Kenneth E.; Econs, Michael J.

doi:10.1053/j.semnephrol.2003.08.016

Cited by 50 publications

(27 citation statements)

References 64 publications

(14 reference statements)

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“…Hypophosphatemic vitamin D-resistant rickets or X linked hypophosphataemia (XLH) is a hereditary disease manifesti ng marked hypophosphataemia caused by renal tubular loss of phosphate into urine and an associated decrease in the calcium and potassium ion product. Normal levels of calcitriol are found in this disorder 12,21 . XLH, fi rst reported by Albright et al 22 , is a syndrome showing marked hypophosphatemia, short stature, and rickets.…”

Section: Types Of Ricketsmentioning

confidence: 99%

“…The systemic fi ndings of XLH include bowed legs because of a body load showing immature skeletal bone calcifi cati on, spinal curvature deformiti es and beading of the ribs called rachiti c rosary [25][26][27] . Other causes of rickets include renal disease, medicati ons, and malabsorpti on syndromes (Table 1 8, [9][10][11][12][13][14][15] ).…”

Section: Types Of Ricketsmentioning

confidence: 99%

“…However, impaired lα(OH)2D metabolism has also been suggested 6,7 . Various types of rickets with clinical features and treatments defi ned on Table 1 8, [9][10][11][12][13][14][15] . The aim of this literature review is to present various types of rickets with clinical features and the dental fi ndings, preventi ve measurements and treatments.…”

Section: Literature Review Introductionmentioning

confidence: 99%

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Types of Rickets, Dental and Histologic Findings: Review of the Literature

Tümen¹

2009

Pesq Bras Odontoped Clin Integr

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Introducti on: A disease that occurs during childhood, rickets is the failure of growing bone to mineralize. Many skeletal and radiographic changes can ocur because of the lack of calcifi ed osteoid and the buildup of unossifi ed carti lage. Proper bone formati on requires a complex interplay of several organs and chemicals, and vitamin D deserves special menti on because any disturbance in its producti on, absorpti on, or metabolism is paramount in the development of rickets. The pathophysiology of the disease is thought to be impaired phosphate transport, especially decreased phosphate resorpti on in the renal proximal tubule, as well as in the intesti ne. In most cases, the diagnosis is established with a thorough history and physical examinati on and confi rmed by laboratory evaluati on. Early diagnosis is essenti al because morbidity can be minimized if children are treated before eight months of age. Objecti ve: The aim of this literature review is to present various types of rickets with clinical features and the dental fi ndings, preventi ve measurements and treatments. Conclusion: The denti st as well as the pediatrician should be made aware of the features of this disorder so that early interventi on can prevent subsequent serious and more invasive dental procedures. KEYWORDS DESCRITORES Rickets;Hypophosphataemia; Oral manifestati ons; Therapeuti cs. RESUMO ABSTRACTIntrodução: O raquiti smo, uma doença que ocorre durante a infância, é a falta de crescimento ósseo necessário para a mineralização. Diversas alterações radiográfi cas esqueléti cas podem ocorrer devido a ausência de osteóide calcifi cado e a formação de carti lagem. A formação óssea adequada requer uma complexa interação de vários órgãos e produtos químicos, e a vitamina D merece uma menção especial, pois qualquer alteração na sua produção, absorção ou no seu metabolismo é fundamental para o desenvolvimento do raquiti smo. Acredita-se que a fi siopatologia da doença está no transporte inadequado do fosfato, especialmente na diminuição da reabsorção de fosfato no túbulo renal proximal bem como no intesti no. Na maioria dos casos, o diagnósti co é estabelecido com uma história completa e exame fí sico, e confi rmado por exames laboratoriais. O diagnósti co precoce é essencial, pois a morbidade pode ser minimizada se as crianças forem tratadas antes dos oito meses de idade. Objeti vo: Apresentar os vários ti pos de raquiti smo com suas característi cas clínicas, aspectos dentários, medidas preventi vas e tratamento. Conclusão: O cirurgião-denti sta, bem como o pediatra, devem ser informados das característi cas desta desordem para que a intervenção precoce possa evitar seqüelas subsequentes e procedimentos odontológicos mais invasivos.

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Section: Types Of Ricketsmentioning

confidence: 99%

Section: Types Of Ricketsmentioning

confidence: 99%

Section: Literature Review Introductionmentioning

confidence: 99%

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Types of Rickets, Dental and Histologic Findings: Review of the Literature

Tümen¹

2009

Pesq Bras Odontoped Clin Integr

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“…11 The disease is characterized by short stature, bone pain, enthesopathy (calcification of tendons and ligaments) and lower extremity deformities due to progressive rickets and osteomalacia. 11 Biochemical features of the disease include hypophosphatemia secondary to renal phosphate loss, as well as inappropriately normal 1,25-dihydroxyvitamin-D3 concentrations. The genetic background involves inactivating mutation in PHEX gene.…”

Section: Discussionmentioning

confidence: 99%

Cinacalcet in hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review

Yavropoulou¹,

Kotsa²,

Ψαρράκου³

et al. 2010

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X-linked dominant hypophosphatemic rickets (XLH) is the most prevalent genetic form of hypophosphatemic rickets. standard treatment of XLH patients includes long-term administration of phosphate and calcitriol. Treated patients usually respond well to the conventional therapy and demonstrate amelioration of rachitic symptoms and improved growth. However, long-term administration of phosphate and vitamin D preparations is sometimes complicated with nephrocalcinosis, secondary or tertiary hyperparathyroidism and arterial hypertension. We describe a patient with XLH, caused by a rare missense mutation of the PHEX gene. The patient, while under treatment with alphacalcidol and oral phosphate, developed hypercalciuria, nephrocalcinosis, secondary hyperparathyroidism and arterial hypertension. cinacalcet was added to the therapeutic regimen and the long-term effects on calciotropic parameters and FGF23 levels are herein reported.

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“…The penetrance is high, although there are examples of non-penetrance (Gaucher, WalrantDebray et al 2009). The expressivity varies (Brame, White et al 2004). …”

Section: Phexmentioning

confidence: 99%