Journal of the Formosan Medical Association
Volume 108, Issue 9 , Pages 730-735 , September 2009

Amelioration of Hypophosphatemic Rickets and Osteoporosis With Pamidronate and Growth Hormone in Lowe Syndrome

  • Jia-Woei Hou

      Affiliations

    • Corresponding Author InformationCorrespondence to: Dr Jia-Woei Hou, Department of Pediatrics, Cathay General Hospital, 280 Jen-Ai Road, Section 4, Taipei 106, Taiwan

Received 10 July 2008 ,Revised 28 November 2008 ,Accepted 6 May 2009.

References 

  1. Lowe CU , Terrey M , MacLachlan EA . Organic aciduria, decreased renal ammonia production, hydrophthalmos and mental retardation: a clinical entity . Am J Dis Child . 1952;83:164–184
  2. Richards W , Donnell GN , Wilson WA , et al.   The oculocerebro-renal syndrome of Lowe . Am J Dis Child . 1965;109:185–203
  3. Loi M . Lowe syndrome . Orphanet J Rare Dis . 2006;1:16
  4. Charnas LR , Bernardini I , Rader D , et al.   Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function . N Engl J Med . 1991;324:1318–1325
  5. Holtgrewe JL , Kalen V . Orthopedic manifestations of the Lowe (oculocerebrorenal) syndrome . J Pediatr Orthop . 1986;6:165–171
  6. Lowe M . Structure and function of the Lowe syndrome protein OCRL1 . Traffic . 2005;6:711–719
  7. Constantin A , Laroche M , Moulinier L , et al.   Tubular excretion of phosphate in Paget's disease of bone. Effect of pamidronate . Rev Rhum Engl Ed . 1995;62:493–500
  8. Rodan GA , Fleisch HA . Bisphosphonates: mechanisms of action . J Clin Invest . 1996;97:2692–2696
  9. Hou JW . Rapidly Progressive scoliosis after successful treatment for osteopenia in Costello syndrome . Am J Med Genet A . 2008;146:393–396
  10. Weger W , Kotanko P , Weger M , et al.   Prevalence and characterization of renal tubular acidosis in patients with osteopenia and osteoporosis and in non-porotic controls . Nephrol Dial Transplant . 2000;15:975–980
  11. Roschinger W , Muntau AC , Rudolph G , et al.   Carrier assessment in families with Lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination . Mol Genet Metab . 2000;69:213–222
  12. Addis M , Loi M , Lepiani C , et al.   OCRL mutation analysis in Italian patients with Lowe syndrome . Hum Mutat . 2005;23:524–525
  13. Lee S , Glicklich D , Coco M . Pamidronate used to attenuate post-renal transplant bone loss is not associated with renal dysfunction . Nephrol Dial Transplant . 2004;19:2870–2873
  14. Markowitz GS , Appel GB , Fine PL , et al.   Collapsing focal segmental glomerulosclerosis following treatment with high-dose pamidronate . J Am Soc Nephrol . 2001;12:1164–1172
  15. Smetana S , Michlin A , Rosenman E , et al.   Pamidronate-induced nephrotoxic tubular necrosis—a case report . Clin Nephrol . 2004;61:63–67
  16. Sheffer-Babila S , Chandra M , Speiser PW . Growth hormone improves growth rate and preserves renal function in Dent disease . J Pediatr Endocrinol Metab . 2008;21:279–286
  17. Valk NK , Erdtsieck RJ , Algra D , et al.   Combined treatment of growth hormone and the bisphosphonate pamidronate, versus treatment with GH alone, in GH-deficient adults: the effects on renal phosphate handling, bone turnover and bone mineral mass . Clin Endocrinol (Oxf) . 1995;43:317–324

PII: S0929-6646(09)60397-1

doi: 10.1016/S0929-6646(09)60397-1

Journal of the Formosan Medical Association
Volume 108, Issue 9 , Pages 730-735 , September 2009