Clinical Study of Hypophosphatemic Rickets.
- Author:
Chang Jin LEE
1
;
Hee Yeon CHO
;
Ju Hyung KANG
;
Choong Ho SHIN
;
Il Soo HA
;
Hae Il CHEONG
;
Sei Won YANG
;
Yong CHOI
Author Information
1. Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. ychoi@plaza.snu.ac.kr
- Publication Type:Original Article
- Keywords:
Hypophosphatemic rickets;
Familial hypophosphatemia;
X-linked hypophosphatemic rickets;
vitamin D resistant rickets;
Autosomal dominant hypophosphatemic rickets;
PHEX;
Early treatment
- MeSH:
Alkaline Phosphatase;
Calcitriol;
Congenital Abnormalities;
Diagnosis;
Familial Hypophosphatemic Rickets;
Genetic Diseases, Inborn;
Genu Varum;
Humans;
Hypercalciuria;
Hyperparathyroidism;
Hypophosphatemia;
Hypophosphatemia, Familial;
Leg;
Medical Records;
Nephrocalcinosis;
Osteotomy;
Parents;
Reference Values;
Retrospective Studies;
Rickets, Hypophosphatemic*;
Vitamin D
- From:Journal of the Korean Society of Pediatric Nephrology
2004;8(2):195-204
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PURPOSE: Hypophosphatemic rickets is a hereditary disease, characterized by hypophosphatemia due to renal phosphate wasting, impaired renal production of 1,25-dihydroxyvitamin D3, rachitic bone deformities and impaired growth. The purpose of this study is to provide clinical profiles of patients with hypophosphatemic rickets in our hospital. METHODS: Between July 1983 and February 2004, 56 patients were diagnosed as having hypophosphatemic rickets. The medical records of these patients were reviewed retrospectively. Clinical manifestations, family histories, laboratory data, treatment outcomes were described. RESULTS: Fifty six patients were enrolled in this study. The average age at symptom onset and diagnosis were 20 months and 5 years respectively. Fourteen patients had family histories. The main clinical manifestations were bow legs and short stature. There was a significant negative correlation between the ages and the height z-scores at the time of diagnosis(r=-0.47, P=0.005). Initial laboratory data showed normocalcemia, hypophosphatemia, elevated serum alkaline phosphatase, decreased tubular reabsorption of phosphate and a normal range of 1,25-dihydroxyvitamin D3. Radiographic examinations of bone revealed fraying, widening and cupping of the metaphyseal ends. Treatment consisted of Joulie solution and vitamin D metabolites, and resulted in improved biochemical and radiographic findings. However, height z-scores remained essentially unchanged(P=0.224). Complications of treatment were frequently observed, including hyperparathyroidism, nephrocalcinosis, and hypercalciuria. Sixteen patients had corrective osteotomy and 4 of them underwent leg lengthening together. CONCLUSION: There was a gap of several years between the onset of symptoms and the diagnosis. Early treatment seems to be essential to growth. For the earlier treatment, the offsprings of affected parents should be followed up closely.
