Background: The Fanconi syndrome (FS) and GH deficiency (GHD) is a rare association. The FS is a dysfunction in the proximal tubule that can be idiopathic or primary. This dysfunction leads to renal loss of bicarbonate, phosphate, glucose, potassium and amino acids. One of the clinical feature is a delay in body growth. The correction of acidosis can protect the loss of growth. According to the prevalence of idiopathic GHD, it would be expected that 1 in 4 000 patients and, with FS may have both conditions.
Case report: A 1.6-year old girl with FS, presented sweating, rickety rosary, tabes skull, chest keel, signs of rickets, muscle atrophy, enlargement of fists and knees. At this stage H-SDS: −4.49; blood tests showed metabolic acidosis, hiposfatemia, aminoacidúria, glycosuria, phosphaturia. Was excluded from inborn errors of metabolismo. The target height (TH)-SDS was −0.61. The patient received potassium, phosphate, and sodium bicarbonate replacement therapy. Clinical signs of rickets disappeared with this treatment. At 7.5 years, H-SDS: −2.89; HV-SDS: 1.54. At 9 years, H-SDS: −3.72; presented growth velocity reduction(HV-SDS: −3.89), with appropriate therapeutic compliance; IgF1: 12 ng/ml (22.1383 ng/ml); IgFBP3:1.3 μg/ml (2.65.5 μg/ml), GH stimulation test revealed inadequate response. Karyotype 46XX, euthyroid and tubular losses were appropriately replaced, no intestinal malabsorption. MRI of the pituitary gland and hypothalamus was normal. The GH replacement therapy was began at 10 years (H-SDS: −3.85). She presented catch-up growth, HV-SDS: 4.9. GH treatment was maintained for 5.9 months. Menarche occurred at 15.2 anos. At 18 years with 156 cm (H-SDS: −1.03) the patient has no signs of rickets, she continues to use citrate, phosphate, hydrochlorothiazide.
Conclusion: With adequate control of the tubular eletrolyte losses in FS, it is expected an increase in growth rate. Even though uncommon, should be suspected GHD when there is a reduction in growth velocity. In this patient, treatment with GH, citrate and phosphate allowed to reach final height (FH) compatible with the TH.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology