Growth hormone therapy for a patient with idiopathic Fanconi syndrome and growth hormone deficiency

CEN Case Reports
Takayuki OkamotoToshiyuki Takahashi

Abstract

Idiopathic Fanconi syndrome (FS) is characterized by a generalized dysfunction of the renal proximal tubules. Patients with FS often exhibit growth retardation due to complex factors, such as hypophosphatemia, metabolic acidosis, disturbed vitamin D metabolism and hypokalemia. To date, one FS patient has been reported to exhibit growth failure due to growth hormone deficiency (GHD), but the long-term clinical course of recombinant human GH (rhGH) therapy has not been reported. At 10 months of age, the patient was admitted to our hospital due to growth failure. Blood and urinary biochemical abnormalities, such as hypophosphatemia, metabolic acidosis, glycosuria and low-molecular-weight proteinuria, indicated a generalized dysfunction of the renal proximal tubules. The presence of cystinosis, collagen diseases, toxic agents and metabolic diseases were excluded. These features are compatible with idiopathic FS. Treatment with high-dose alkali, potassium citrate, phosphate buffer, hydrochlorothiazide and vitamin D supplement was initiated. The biochemical abnormalities achieved nearly normal values, and the patient's height was within -2.5 SD at the age of 2 years. However, his height did not continue to increase at the same rate a...Continue Reading

References

Oct 1, 1995·Clinical Endocrinology·B L ClarkeL A Fitzpatrick
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Aug 1, 1997·European Journal of Pediatrics·L StamoyannouA Koutselinis
Jun 17, 2004·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Christian PlankJörg Dötsch
Apr 15, 2006·Hormones : International Journal of Endocrinology and Metabolism·Tasoula Tsilchorozidou, John G Yovos
Aug 4, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Radovan BogdanovićMichael Ludwig
Sep 21, 2011·European Journal of Pediatrics·Takayuki OkamotoSatoshi Sasaki
Sep 16, 2015·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Lesley Rees

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