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Early diagnosis and immediate treatment of hypophosphatemic rickets is of utmost importance as it may prevent subsequent sequelae. This report aims at warning pediatricians to consider the presence of the disease. Description of the metabolic profile, creatinine clearance, nutritional status, weight and body structure of a patient who presented the clinical-laboratorial characteristics of hypophosphatemic rickets and was followed in an outpatient clinic for tubulopathies over the period of 12 months.
The patient had been bedridden for some time, was dependent on mechanical ventilation and presented an altered metabolic bone condition. The patient improved, evolving into spontaneous breathing and walking unaided. The medication improved his laboratory results and nutritional status, but the patient did not return for two years for follow-up and, during this period, his condition has noticeably deteriorated.
Formas mais leves podem ser subdiagnosticadas. Tenenhouse HS, Murer H. Disorders of renal tubular phosphate transport. J Am Soc Nephrol. Hereditary disorders of renal phosphate wasting. Nat Rev Nephrol. J Bone Miner Res. Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications.
Eur J Endocrinol. Gattineni J, Baum M. Genetic disorders of phosphate regulation. Pediatr Nephrol. Phosphate homeostasis and its role in bone health. Hyperoxaluria is not a cause of nephrocalcinosis in phosphate-treated patients with hereditary hypophosphatemic rickets. Regulation of phosphate transport by fibroblast growth factor 23 FGF23 : implications for disorders of phosphate metabolism.
No-referred authorship. A gene PEX with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nat Genet. Intrinsic mineralization defect in Hyp mouse osteoblasts. Am J Physiol. ADHR Consortium. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF Hypophosphatemia and growth. Pettifor JM, Thandrayen K. Hypophosphatemic rickets: unraveling the role of FGF Calcif Tissue Int.
Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. NHERF1 mutations and responsiveness of renal parathyroid hormone. N Engl J Med. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
Am J Hum Genet. Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. E-mail: mariacristina mbapediatria. Services on Demand Journal. Case description: Description of the metabolic profile, creatinine clearance, nutritional status, weight and body structure of a patient who presented the clinical-laboratorial characteristics of hypophosphatemic rickets and was followed in an outpatient clinic for tubulopathies over the period of 12 months.
Comments: Early diagnosis and follow-up are essential in dealing with this pathology. Recebido: 03 de Fevereiro de ; Aceito: 16 de Maio de How to cite this article.
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Correspondencia a:. Introduction: Tenofovir TDF is an inhibitor of reverse transcriptase nucleotide analogue, although it has good tolerability and high anti-retroviral activity, its effect on the kidney has been a concern. Clinical case: We describe a HIVinfected girl, who after 18 months treatment with TDF presented loss of strength and pain of the lower extremities with functional impairment. Laboratory findings were consistent with Fanconi syndrome. Radiographs showed bilateral hip fracture and wrists. Full recovery of Fanconi syndrome was achieved four months after changing antiretroviral therapy.
Tabla 1. Read this article in English. DOI: Hydroelectrolytic disorders secondary to refeeding syndrome. Descargar PDF. Javier D.
Terapia nutricional. Grupos de risco e patogenia. Alvarez-Leite JI. Nutrient deficiencies secondary to bariatric surgery. Board of Directors. Enteral Nutrition Practice Recommendations. JPEN ;33 2