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Hypophosphatemic Nephrolithiasis - Osteoporosis Type 2
Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

Presentation

Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty. [books.google.com]

Studies suggest that it is present in approximately 80% of the cases11. [jbn.org.br]

Rickets and/or osteomalacia is the presenting feature. Mild forms may present with hypercalciuria and nephrolithiasis without bone disease. [boneandspine.com]

Urinary tract infection may present concurrently with a renal stone. Stones may be a complication of other anatomic abnormalities of the kidneys, including autosomal dominant polycystic kidney disease. [mhmedical.com]

ORPHA:244305 Synonym(s): - Prevalence: Inheritance: Autosomal dominant Age of onset: Adult ICD-10: - OMIM: 612286 612287 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]

Treatment

Clinical Features of Rickets Image Credit: Medscape Treatment of Hypophosphatemic Rickets Standard treatment of hypophosphatemic rickets is the administration of calcitriol. Addition of phosphates has been found not to be beneficial. [boneandspine.com]

Treatment considerations are as follows: • The patient's serum phosphate level, calcium level, bone density, and growth should be monitored frequently to ensure adequacy of treatment. 43. [slideshare.net]

Treatment with antiresorptive agents may be indicated in patients with osteopenia or osteoporosis. [enotes.tripod.com]

Some patients can have marked improvement in bony deformity with treatment, hence corrective osteotomy should be considered only after adequate duration of medical therapy. [ijem.in]

Prognosis

Prognosis of Hypoph0sphatemic Rickets Apart from the short stature of most affected adults, the prognosis for a normal lifespan and normal health is good. Abnormal dentine formation causes late dentition and spontaneous abscess formation. [boneandspine.com]

Prognosis • The prognosis for a treatable and usually transient cause of hypophosphatemia is excellent. [slideshare.net]

Etiology

If FEPO4 is > 5%, renal wasting is present, implicating hyperparathyroidism or alternate etiologies of renal tubular defects. [clinicaladvisor.com]

Since the etiology of hypocitraturia is multifactorial and directly related to the consumption of animal protein, promoting acid overload, its incidence varies in the different studied regions36. [jbn.org.br]

Tertiary hyperparathyroidism has long been thought to be the etiology, but hypophosphatemia can occur in patients with low parathyroid hormone (PTH) levels and can persist after high PTH levels normalize. [slideshare.net]

Although these conditions exhibit different etiologies, increased phosphatonins form a common link among them. Fibroblast growth factor 23 (FGF23) is the most widely studied phosphatonin. [ijem.in]

The approach is different in patients with recurrent or persistent hyperparathyroidism because of the differences in etiologies and in surgical morbidity due to fibrosis as compared with unoperated patients. [enotes.tripod.com]

Epidemiology

Studies on the prevalence and epidemiology of urinary stone disease in men in Leeds. Br J Urol 1983;55:595-8. 17. Hughes P. Kidney stones epidemiology. Nephrol 2007;12:S26-30. 18. Pak CYC, Resnick MI. [jbn.org.br]

Studies of epidemiology and calcium metabolism. Scand. J. Urol. Nephrol. 41, 1–96 (1977). 10. Sutherland, J. W., Parks, J. H. & Coe, F. L. Recurrence after a single renal stone in a community practice. Miner. [nature.com]

Pathophysiology

Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices. [books.google.com]

Cause and Pathophysiology X linked hypophosphatemic rickets In X linked hypophosphatemic rickets, a mutant gene known as PHEX results in the reduced breakdown of FGF 23. [boneandspine.com]

Hypocitraturia: pathophysiology and medical management. Rev Urol 2009;11:134-44. 35. Tefekli A, Esen T, Ziylan O, Erol B, Armagan A, Ander H et al. [jbn.org.br]

Knowledge regarding the pathophysiology of phosphate homeostasis is essential for better understanding of hypophosphatemic rickets. [ijem.in]

Cystinuria: recent advances in pathophysiology and genetics. Contrib. Nephrol. 122, 173–177 (1997). 125. Goodyer, P., Boutros, M. & Rozen, R. The molecular basis of cystinuria: an update. Exp. Nephrol. 8, 123–127 (2000). 126. [nature.com]

Prevention

How can disorders of phosphorus be prevented? Monitor for abnormal Phos levels in the context of conditions that present risk of derangement such as renal insufficiency, rhabdomyolysis, or use of amphotericin B. [clinicaladvisor.com]

Serum phosphate and calcium levels should be monitored every 6 hours to ensure maintenance of normal calcium levels and to prevent overcorrection of phosphate deficiency. 48. [slideshare.net]

Raloxifene (Evista) — Raloxifene, a selective estrogen receptor modulator is for the prevention and treatment of osteoporosis. [enotes.tripod.com]

Patients with anatomically abnormal kidney stones must undergo metabolic evaluation to identify risk factors, start the medical preventive therapy, and reduce the risk of relapse12. [jbn.org.br]

Hypophosphatemia is a common denominator of both groups of rickets. [2] It prevents apoptosis in the hypertrophic cells in the growth plate. [ijem.in]

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