Author(s): Dr. Manish Patel and Dr. Yash Mehta

Abstract: Introduction: Vitamin D–resistant rickets, or hereditary hypophosphatemic rickets, encompasses a group of disorders in which normal dietary intake of vitamin D is insufficient to achieve normal mineralization of bone because of pathologic renal phosphate wasting. X-linked dominant disease involves (PHEX) gene mutation, which produces elevated levels of FGF23 that reduces renal phosphate reabsorption and conversion of 25(OH) calciferol to its active form, 1, 25 (OH) 2calciferol. This leads to increased renal phosphate excretion, hypophosphatemia, short stature, long bone bowing, physeal widening and rachitic rosary. In autosomal dominant form, mutations in FGF23 produce renal phosphate wasting. In the autosomal recessive form, mutations in DMP1 gene and ENPP1 impair osteocyte maturation and bone mineralization, producing elevated levels of FGF23, leading to phosphaturia and hypophosphatemia. Methods and Materials: Case was of 16 yrs old male with Right Genu Valgum, Left Genu Varum with short stature in k/c/o medullary sponge kidney. Patient developed windswept deformity in both knees since age of 14 years. Xray of both Knee showed angle of 17/163 on Right and 165/15 on Left. Blood investigations showed normal levels of calcium (8.6), PTH (59.7). Serum phosphate concentration was significantly decreased (2.5), whereas the 1, 25 (OH)-cholecalciferol level was low in response to hypophosphatemia. Serum ALP concentration was elevated (400). Urine showed increased phosphate in urine. Medical treatment comprised of oral replacement of phosphorus and active form of vitamin D, calcitriol. In surgical treatment, case was selected for Open reduction- Internal fixation with Recon plating (Epiphysiodesis) in both knees. Results: Xray/Scanogram of both knee joint done at Immediate postop showed 164/16 (Rt):165/15(Lt), at 6 months showed 169/11(Rt): 170/10(Lt) & at 9 months showed 172/8(Rt):174/6(Lt). Epiphysiodesis has resulted in correction at Right knee and at Left knee with 1 degree per month. Conclusion: Epiphysiodesis restricts the growth naturally occuring at one side of physes and this facilitates growth at other side of physes. It helps in correction of deformity gradually, at around 1 degree per month as it depends on skeletal maturation. Epiphysiodesis is done before physeal closure and has no role after achieving skeletal maturity.

DOI: 10.22271/27078345.2024.v6.i1b.199

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