An Overview of Rickets in Children

被引:60
作者
Chanchlani, Rahul [1 ,2 ]
Nemer, Paul [3 ]
Sinha, Rajiv [4 ]
Nemer, Lena [3 ]
Krishnappa, Vinod [3 ,5 ]
Sochett, Etienne [6 ]
Safadi, Fayez [7 ,8 ]
Raina, Rupesh [3 ,9 ]
机构
[1] McMaster Childrens Hosp, Div Pediat Nephrol, Dept Pediat, Hamilton, ON, Canada
[2] McMaster Univ, Dept Hlth Res Methods Evidence & Impact, Hamilton, ON, Canada
[3] Cleveland Clin Akron Gen, Akron Nephrol Associates, Akron, OH USA
[4] Inst Child Hlth, Div Pediat Nephrol, Kolkata, India
[5] Northeast Ohio Med Univ, Dept Publ Hlth, Rootstown, OH USA
[6] Hosp Sick Children, Div Pediat Endocrinol, Toronto, ON, Canada
[7] Northeast Ohio Med Univ, Dept Anat & Neurobiol, Rootstown, OH USA
[8] Akron Children Hosp, Rebecca D Considine Res Inst, Akron, OH USA
[9] Akron Childrens Hosp, Dept Nephrol, Akron, OH 44308 USA
关键词
chronic kidney disease; hypocalcemia; hypophosphatemia; phosphorus; vitamin D; VITAMIN-D-DEFICIENCY; HEREDITARY HYPOPHOSPHATEMIC RICKETS; X-LINKED HYPOPHOSPHATEMIA; D-RESISTANT RICKETS; TARGETED ABLATION; ANIMAL-MODEL; D-RECEPTOR; PHOSPHATE; PREVENTION; MUTATIONS;
D O I
10.1016/j.ekir.2020.03.025
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
Rickets is a common bone disease worldwide that is associated with disturbances in calcium and phos- phate homeostasis and can lead to short stature and joint deformities. Rickets can be diagnosed based on history and physical examination, radiological features, and biochemical tests. It can be classified into 2 major groups based on phosphate or calcium levels: phosphopenic and calcipenic. Knowledge of cate- gorization of the type of rickets is essential for prompt diagnosis and proper management. Nutritional rickets is a preventable disease through adequate intake of vitamin D through both dietary and sunlight exposure. There are other subtypes of rickets, such as vitamin D-dependent type 1 rickets and vitamin D- dependent type 2 rickets (due to defects in vitamin D metabolism), renal rickets (due to poor kidney function), and hypophosphatemic rickets (vitamin D-resistant rickets secondary to renal phosphate wasting wherein fibroblast growth factor -23 (FGF-23) often plays a major role), which requires closer monitoring and supplementation with activated vitamin D with or without phosphate supplements. An important development has been the introduction of burosumab, a human monoclonal antibody to FGF- 23, which is approved for the treatment of X -linked hypophosphatemia among children 1 year and older.
引用
收藏
页码:980 / 990
页数:11
相关论文
共 77 条
[1]   Vitamin D status among Adult Saudi Females visiting Primary Health Care Clinics [J].
Al-Mogbel, Ebtehal Solaiman .
INTERNATIONAL JOURNAL OF HEALTH SCIENCES-IJHS, 2012, 6 (02) :116-126
[2]  
Ariganjoye R., 2017, Glob Pediatr Health, V4, DOI 10.1177/2333794X16685504
[3]   National Osteoporosis Society Vitamin D Guideline Summary [J].
Aspray, Terry J. ;
Bowring, Claire ;
Fraser, William ;
Gittoes, Neil ;
Javaid, M. Kassim ;
Macdonald, Helen ;
Patel, Sanjeev ;
Selby, Peter ;
Tanna, Nuttan ;
Francis, Roger M. .
AGE AND AGEING, 2014, 43 (05) :592-595
[4]   Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children [J].
Ballesteros, Luisa F. Gonzalez ;
Ma, Nina S. ;
Gordon, Rebecca J. ;
Ward, Leanne ;
Backeljauw, Philippe ;
Wasserman, Halley ;
Weber, David R. ;
DiMeglio, Linda A. ;
Gagne, Julie ;
Stein, Robert ;
Cody, Declan ;
Simmons, Kimber ;
Zimakas, Paul ;
Topor, Lisa Swartz ;
Agrawal, Sungeeta ;
Calabria, Andrew ;
Tebben, Peter ;
Faircloth, Ruth ;
Imel, Erik A. ;
Casey, Linda ;
Carpenter, Thomas O. .
BONE, 2017, 97 :287-292
[5]   Hypophosphatemic rickets [J].
Baroncelli, Giampiero I. ;
Toschi, Benedetta ;
Bertelloni, Silvano .
CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY, 2012, 19 (06) :460-467
[6]   SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis [J].
Bergwitz, C ;
Roslin, NM ;
Tieder, M ;
Loredo-Osti, JC ;
Bastepe, M ;
Abu-Zahra, H ;
Frappier, D ;
Burkett, K ;
Carpenter, O ;
Anderson, D ;
Garabédian, M ;
Sermet, I ;
Fujiwara, TM ;
Morgan, K ;
Tenenhouse, HS ;
Jüppner, H .
AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (02) :179-192
[7]   Burosumab Therapy in Children with X-Linked Hypophosphatemia [J].
Carpenter, Thomas O. ;
Whyte, Michael P. ;
Imel, Erik A. ;
Boot, Annemieke M. ;
Hogler, Wolfgang ;
Linglart, Agnes ;
Padidela, Raja ;
van't Hoff, William ;
Mao, Meng ;
Chen, Chao-Yin ;
Skrinar, Alison ;
Kakkis, Emil ;
San Martin, Javier ;
Portale, Anthony A. .
NEW ENGLAND JOURNAL OF MEDICINE, 2018, 378 (21) :1987-1998
[8]   Rickets [J].
Carpenter, Thomas O. ;
Shaw, Nick J. ;
Portale, Anthony A. ;
Ward, Leanne M. ;
Abrams, Steven A. ;
Pettifor, John M. .
NATURE REVIEWS DISEASE PRIMERS, 2017, 3
[9]  
Choudhury Sangita, 2013, Indian J Endocrinol Metab, V17, pS224, DOI 10.4103/2230-8210.119579
[10]   Vitamin D - Molecular mechanism of action [J].
Christakos, Sylvia ;
Dhawan, Puneet ;
Benn, Bryan ;
Porta, Angela ;
Hediger, Matthias ;
Oh, Goo T. ;
Jeung, Eui-Bae ;
Zhong, Yan ;
Ajibade, Dare ;
Dhawan, Kopal ;
Joshi, Sneha .
SKELETAL BIOLOGY AND MEDICINE, PT A: ASPECTS OF BONE MORPHOGENESIS AND REMODELING, 2007, 1116 :340-348