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Journal of the Korean Society of Pediatric Nephrology 2004;8(2): 195-204.
저인산혈성 구루병에 대한 임상적 고찰
이창진, 조희연, 강주형, 신충호, 하일수, 정해일, 양세원, 최용
1서울대학교 의과대학 소아과학교실
2서울대학교 의과대학 소아과학교실
3서울대학교 의과대학 소아과학교실
4서울대학교 의과대학 소아과학교실
5서울대학교 의과대학 소아과학교실
6서울대학교 의과대학 소아과학교실
7서울대학교 의과대학 소아과학교실
8서울대학교 의과대학 소아과학교실
Clinical Study of Hypophosphatemic Rickets
Chang-Jin Lee, Hee-Yeon Cho, Ju- Hyung Kang, Choong-Ho Shin, Il-Soo Ha, Hae-Il Cheong, Sei-Won Yang, Yong Choe
1Department of Pediatrics, Seoul National University Children's Hospital
2Department of Pediatrics, Seoul National University Children's Hospital
3Department of Pediatrics, Seoul National University Children's Hospital
4Department of Pediatrics, Seoul National University Children's Hospital
5Department of Pediatrics, Seoul National University Children's Hospital
6Department of Pediatrics, Seoul National University Children's Hospital
7Department of Pediatrics, Seoul National University Children's Hospital
8Department of Pediatrics, Seoul National University Children's Hospital
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ABSTRACT
Purpose: Hypophosphatemic rickets is a hereditary disease, characterized by hypophosphatemia due to renal phosphate wasting, impaired renal production of 1,25-dihydroxyvitamin $D_3$, 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 $D_3$ 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.
Key words: Hypophosphatemic rickets | Familial hypophosphatemia | X-linked hypophosphatemic rickets | vitamin D resistant rickets | Autosomal dominantt hypophosphatemic rickets | PHEX | Early treatment
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A Case of Hypophosphatemic Rickets associated with Epidermal Nevus Syndrome  2005 October;9(2)
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