• HOME
  • Search
Review Article
X-linked hypophosphatemic rickets: from diagnosis to management
EUJIN PARK, Hee Gyung Kang
X-linked hypophosphatemia (XLH) is the most common cause of hypophosphatemic rickets, affecting one in 20,000 people. Although conventional therapy for XLH has been introduced for approximately four decades, temporary replacement of oral phosphate salts and activated vitamin D cannot completely control chronic hypophosphatemia, leaving patients with incomplete healing of rickets, residual skeletal deformity, risk of endocrine abnormalities, and adverse drug...
Original Article
Clinical characteristics and prevalence of vitamin D insufficiency in children less than two years of age
Ji Hyun Yoon, Cheong Soo Park, Ji Young Seo, Yun Sun Choi, Young Min Ahn
Clin Exp Pediatr. 2011;54(7):298-303.   Published online July 31, 2011

To evaluate the clinical characteristics of vitamin D deficiency and its association with iron deficiency anemia (IDA).


A total of 171 children aged less than two years underwent 25-hydroxyvitamin D3 tests between January 2007 and July 2009. The study was classified into two groups: normal and vitamin D insufficiency, by their vitamin 25-hydroxyvitamin D3 levels.


In total, 120 children were in the...

Review Article
Vitamin D dependent rickets type I
Chan Jong Kim
Clin Exp Pediatr. 2011;54(2):51-54.   Published online February 28, 2011

Vitamin D is present in two forms, ergocalciferol (vitamin D2) produced by plants and cholecalciferol (vitamin D3) produced by animal tissues or by the action of ultraviolet light on 7-dehydrocholesterol in human skin. Both forms of vitamin D are biologically inactive pro-hormones that must undergo sequential hydroxylations in the liver and the kidney before they can bind to and activate...

Original Article
Clinical characteristics of vitamin D deficiency rickets in infants and preschool children
Kyoung Huh, Mi Kyeong Woo, Jung Rim Yoon, Gyu Hong Shin, Myoung Jae Chey, Mi Jung Park
Clin Exp Pediatr. 2010;53(2):152-157.   Published online February 15, 2010
Purpose : Vitamin D deficiency rickets is a significant public health problem that results from insufficient exposure to sunlight and inadequate vitamin D supplementation. The purpose of this study is to identify the clinical characteristics of vitamin D deficiency rickets in infants. Methods : Data of 35 infants diagnosed as vitamin D deficiency rickets at Sanggye-Paik Hospital, Seoul, Korea, from March...
Review Article
Recent concepts on vitamin D in children and adolescents
Hye Ran Yang, Jeong Wan Seo, Yong Joo Kim, Jae Young Kim, Eell Ryoo, Jae Geon Sim, Hye Won Yom, Ju Young Chang, Ji A Jung, Kwang Hae Choi
Clin Exp Pediatr. 2009;52(10):1082-1089.   Published online October 15, 2009
Vitamin D is an important fat-soluble vitamin that functions as a prohormone and affects bone mineralization and calcium homeostasis. Vitamin D deficiency causesboth musculoskeletal manifestations, including rickets, and extra-musculoskeletal symptoms. Because vitamin D is naturally present in only some foods, intake of daily foods cannot meet the dietary reference intake for vitamin D. Sunlight is the main source of vitamin...
Original Article
Eight cases of incidentally diagnosed as subclinical rickets
Ji-Young Seo, Curie Kim, Hee-Woo Lee, Young-Min Ahn
Clin Exp Pediatr. 2008;51(8):812-819.   Published online August 15, 2008
Purpose : Vitamin D plays a key role in bone mineralization of the skeleton and vitamin D deficiency can lead to rickets. It is well known that vitamin D deficiency is common in breast fed infants. Of these patients, clinically, some have no signs of rickets, but laboratory and radiographic findings are diagnostic for vitamin D deficiency rickets (subclinical vitamin...
Subclinical rickets in breastfed infants
Sin Young Park, Sung Woo Park, Sung Kil Kang, Yong Hoon Jun, Soon Ki Kim, Byong Kwan Son, Jee Eun Lee
Clin Exp Pediatr. 2007;50(12):1188-1193.   Published online December 15, 2007
Purpose : The prevalence of rickets in the world is on the rise not only in developing but also in developed countries. In Korea, breastfeeding has increased. There have been few studies on the possible association of rickets with breastfeeding. The purpose of this study was to identify the development and the clinical presentation of subclinical rickets in breastfed infants. Methods...
A Case of Vitamin D-Dependent Rickets, Type 1
Ji Hye Hur, Chong Guk Lee, Chung Wook Sur
Accepted January 1, 1970  
"Rickets" is the term applied to impaired mineralization at epiphyseal growth plate, resulting in deformity and impaired linear growth of long bones. Rickets may arise as a result of vitamin D deficiency or abnormality in metabolism. Vitamin D-dependent rickets(VDDR) is rare autosomal recessive disorder in which affected individuals have clinical features of vitamin D deficiency. In 1961, Prader first described...
Case Report
A Case of Rickets Developed after Feeding on Sunsik for Seven Months
Jeong-A Yang, Kyung-A Jang, Hye-Won Park, Wook Jang, Man-Yong Han, Young-A Cho, Eun Lee
Clin Exp Pediatr. 2003;46(11):1143-1146.   Published online November 15, 2003
Rickets is a nutritional disorder which is caused either by deficiency of vitamin D or by a defective activation of vitamin D. In these days, even though the incidence of rickets has decreased through adequate nutritional support, we sometimes experience rickets in babies receiving a prolonged special diet as therapy for chronic diarrhea, or those subject to a in receiving...
Original Article
Type I Vitamin D Dependent Rickets
Soo Ja Hwang, Jung Soo Kim, Hae Il Cheong, Yong Choi
Clin Exp Pediatr. 1998;41(7):877-882.   Published online July 15, 1998
Purpose : Vitamin D dependent rickets(VDDR) is a rare, autosomal recessively transmitted disorder characterized by hypocalcemia, hypophosphatemia, increased alkaline phosphatase, secondary hyperparathyroidism and many other clinical features. Type Ⅰ VDDR arises from primary deficiency in the renal 1α-hydroxylase that produces 1,25(OH)2D3. So patients with type I VDDR require life long administration of vitamin D. Methods : There had been 6 children(4...
Primary Distal Renal Tubular Acidosis in Children
Byoung Chul Kang, Hye Won Park, Il Soo Ha, Hae Il Cheong, Yong Choi
Clin Exp Pediatr. 1996;39(7):987-996.   Published online July 15, 1996
Purpose : This study was designed to examine the clinical characteristics and the effect of treatment in children with primary distal renal tubular acidosis (dRTA). Methods : Medical records of 4 children diagnosed as dRTA at Seoul National University Children's Hospital were reviewed, and the clinical manifestations, laboratory findings, diagnostic criteria and effects of treatments were investigated. Results : All cases presented with growth retardation....
Hypophosphatemic Rickets
Jae un, June Huh, Il Soo Ha, Hae Il Cheong, Yong Choi
Clin Exp Pediatr. 1994;37(3):376-382.   Published online March 15, 1994
The clinical data of 27 patients with hypophosphatemic rickets treated with phosphate and 1 α-hydroxyvitamin D were analysed retrospectively. The median age at diagnosis was 4 years, and the main clinical manifestations were bowleg and short stature. Among total 24 families, 5 families(21%) had X-linked dominant mode of inheritance, 1 family (4%) had autosomal dominant mode and 17 families (71%)...
Hepatic Rickets in Infancy with Neonatal Hepatitis
Mi Koo Kang, Eun Young Cho, Soo Jong Hong, Ki Soo Kim, Young Seo Park, Hyung Nam Moon, Chang Yee Hong
Clin Exp Pediatr. 1992;35(4):527-533.   Published online April 15, 1992
We had treated a hepatic rickets in 6 infants with neonatal hepatitis from June 1989 to August 1990 at Asan Medical Center. The results were as follows 1) Age of 6 patients were below 4 months and 4 patients were male, 2 patients were female. 2) The clinical findings were hepatosplenomegaly(5 cases), jaundice(4 cases), craniotabes (4 cases), failure to thrive(2 cases), hypocalcemiac seizure(2...
Hypophosphatemic Rickets.
Kyung Mo Kim, Seong Hoon Ha, Dong Kyu Jin, Kwang Wook Ko
Clin Exp Pediatr. 1990;33(4):437-447.   Published online April 30, 1990
Seventeen patients who were diagnosed as primary hypophosphatemic rickets at Department of Pediatrics, Seoul National University Children’s Hospital were analyzed to assess its clinical aspect and effect of treatment, especially on height and growth velosity. The average age of onset was 2 years, and their chief complaints were bowleg and short stature. Sex ratio was l.l:l(male: female). Familial hypophoshatemic rickets was known as X-linked...
Clinical Study of Hypophosphatemic Rickets.
Seok Min Choi, Duk Hi Kim, Chin Suck Suh
Clin Exp Pediatr. 1989;32(8):1057-1063.   Published online August 31, 1989
Hypophosphatemic rickets is a disorder characterized by a normal or slightly reduced serum calcium level, a moderately reduced serum phosphorus level and elevated alkaline phosphatase activity. The usual mode of inheritance is X-linked dominant and postulated mechanism is a selective disorder of tubular reabsorption of phosphate, defective conversion of 21-hydroxyvitamin D3 to calcitriol and increased catabolism of calcitriol. In children with renal hypophosphatemic rickets, growth...
Case Report
Vitamin D Deficiency Rickets.
Chong Suhn Kim, Wha Za Shin, Hyun Suk Lee
Clin Exp Pediatr. 1981;24(1):70-74.   Published online January 15, 1981
Vitamin D deficiency cause rickets, metabolic disorder of growing bone resulting in bony deformities. Rickets is characterized by formation of collagen and osteoid with defective mineralization. We had experienced ??severe case of Vitamin D deficiency Rickets. He was a boy of 23month at age, fed with gruel only for 6month. Physical, biochemical and radiological finding & therapeutic procedure were presented,...
  • PubMed Central
  • PubMed
  • Scopus
  • Directory of Open Access Journals (DOAJ)