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X-Linked Dominant Hypophosphatemic Rickets (X-Linked Hypophosphatemia)

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An X-linked disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. This disorder is caused by mutations in PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE.

Also Known As:

X-Linked Hypophosphatemia; Hypophosphatemic Rickets; Hypophosphatemic Rickets, X-Linked Dominant; Hypophosphatemia, Vitamin D-Resistant Rickets; Hypophosphatemia, X-Linked; Vitamin D-Resistant Rickets, X-Linked; Hypophosphatemia, X Linked; Hypophosphatemic Ricket; Hypophosphatemic Rickets, X Linked Dominant; Hypophosphatemic Rickets, X-Linked; Ricket, Hypophosphatemic; Rickets, Vitamin D Resistant; Vitamin D Resistant Rickets, X Linked; Vitamin D-Resistant Rickets; X Linked Hypophosphatemia; X-Linked Hypophosphatemic Rickets; Rickets, Hypophosphatemic; Rickets, Vitamin D-Resistant; Rickets, X-Linked Hypophosphatemic

Networked: 637 relevant articles (14 outcomes, 39 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Osteomalacia
2.	Neoplasms (Cancer)
3.	Hypophosphatemia
4.	Hypercalciuria
5.	Congenital Abnormalities (Deformity)

Experts

1.	Feldman, David: 16 articles (01/2014 - 11/2002)
2.	Fukumoto, Seiji: 15 articles (07/2015 - 07/2003)
3.	Carpenter, Thomas O: 14 articles (10/2015 - 02/2006)
4.	Malloy, Peter J: 14 articles (01/2014 - 11/2002)
5.	Econs, Michael J: 11 articles (03/2014 - 04/2003)
6.	Jüppner, Harald: 10 articles (10/2014 - 04/2003)
7.	Rowe, Peter S N: 9 articles (11/2015 - 01/2004)
8.	White, Kenneth E: 9 articles (07/2014 - 04/2003)
9.	Quarles, L Darryl: 9 articles (05/2008 - 07/2003)
10.	Liu, Shiguang: 9 articles (05/2008 - 07/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to X-Linked Dominant Hypophosphatemic Rickets:

1.	Vitamin D FDA LinkGeneric 01/01/1992 - "Phosphate therapy alone could cause a complete remission in HHRH, while the addition of active vitamin D metabolites, as is recommended in hypophosphatemic vitamin D resistant rickets, could cause deterioration in the patient's condition." 01/01/2015 - "X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. " 01/01/2014 - "X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. " 09/05/2013 - "To test the functional role of vitamin D signalling we examined the male reproductive system of the Leuven Vdr-ablated (Vdr(-/-)) mice, previously established as a model for hereditary vitamin D-resistant rickets. " 01/01/2013 - "Treatment of Hypophosphatemic Rickets with Phosphate and Active Vitamin D in Japan: A Questionnaire-based Survey."
2.	Calcitriol (Calcijex)FDA LinkGeneric 02/01/2006 - "This study reports the benefits and side effects of conventional treatment, phosphate and calcitriol supplementation in patients with heritable hypophosphatemic rickets and a long-term follow-up, median of 60.9 months. " 09/01/1992 - "A prospective trial of phosphate and 1,25-dihydroxyvitamin D3 therapy in symptomatic adults with X-linked hypophosphatemic rickets." 06/01/1992 - "X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy." 03/01/1991 - "Our study indicates that oral calcitriol has an inhibitory effect on iPTH secretion in the hours immediately after oral phosphate administration in children with vitamin D-resistant rickets." 09/01/2014 - "A 14-year-old male with familial hypophosphatemic rickets, being treated with oral phosphate and calcitriol therapy, presented to the Division of Pediatric Dentistry, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center, Pittsburgh, Pa. "
3.	PhosphorusIBA 10/19/1977 - "Micropuncture study of renal phosphorus transport in hypophosphatemic vitamin D resistant rickets mice." 01/01/1966 - "Studies on the mechanism of phosphorus excretion in vitamin D resistant rickets." 07/01/2015 - "Prolonged Correction of Serum Phosphorus in Adults With X-Linked Hypophosphatemia Using Monthly Doses of KRN23." 04/01/2015 - "Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis." 07/17/2012 - "A correct differential diagnosis with other forms of hypophosphatemic rickets has implications on the treatment, as the management based only on phosphorus supplementation usually corrects all clinical and biochemical abnormalities, except for the loss of phosphorus in the urine. "
4.	fibroblast growth factor 23IBA 11/15/2011 - "Autosomal dominant hypophosphatemic rickets (ADHR) is unique among the disorders involving Fibroblast growth factor 23 (FGF23) because individuals with R176Q/W and R179Q/W mutations in the FGF23 (176)RXXR(179)/S(180) proteolytic cleavage motif can cycle from unaffected status to delayed onset of disease. " 10/01/2015 - "We report on a boy who presented with hypophosphatemic rickets with elevated serum fibroblast growth factor 23 (FGF23) and polyostotic osteolytic lesions at age 2 years. " 02/01/2014 - "Fibroblast growth factor 23 (FGF23) gain of function mutations can lead to autosomal dominant hypophosphatemic rickets (ADHR) disease onset at birth, or delayed onset following puberty or pregnancy. " 01/01/2013 - "Fibroblast growth factor 23 (FGF23) is responsible for phosphate wasting and the phenotypic changes observed in human diseases such as X-linked hypophosphatemia (XLH). " 12/01/2012 - "X-linked hypophosphatemia is the most common of the phosphate-wasting disorders mediated by elevated fibroblast growth factor 23 (FGF23) and occurs as a consequence of inactivating mutations of the PHEX gene product. "
5.	hydroxide ionIBA 02/01/1990 - "Previous studies have suggested that both plasma 24,25-dihydroxyvitamin D [24,25-(OH)2D] concentrations and renal 25-hydroxyvitamin D-24-hydroxylase activity are increased in mice with X-linked hypophosphatemia (Hyp mice). " 01/01/2011 - "Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type." 05/01/2006 - "In the Hyp-mouse homologue of X-linked hypophosphatemic rickets, administration of 1,25(OH)(2)D(3) further increased circulating FGF23 levels. " 09/01/1997 - "In hereditary hypocalcemic vitamin D-resistant rickets (HVDRR), natural mutations in human VDR that confer patients with tissue insensitivity to 1,25(OH)2D3 are particularly instructive in revealing VDR structure function relationships. " 01/01/1992 - "Phosphate administration enhances the action of 1,25(OH)2D3 in familial hypophosphatemic vitamin D resistant rickets."
6.	1,25-dihydroxyvitamin DIBA 10/01/2013 - "Familial vitamin D resistant rickets: End-organ resistance to 1,25-dihydroxyvitamin D." 01/01/1986 - "Clinical features of hereditary resistance to 1,25-dihydroxyvitamin D (hereditary hypocalcemic vitamin D resistant rickets type II)." 01/01/1981 - "Stimulation of cortical bone mineralization and remodeling by phosphate and 1,25-dihydroxyvitamin D in vitamin D-resistant rickets." 01/01/1981 - "Serum 1,25-dihydroxyvitamin D concentration in hypophosphatemic vitamin D-resistant rickets." 01/01/2012 - "Autosomal dominant hypophosphatemic rickets (ADHR; MIM 193100) is a hereditary disorder characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D(3) levels. "
7.	Sodium-Phosphate Cotransporter Proteins (Sodium-Phosphate Cotransporter)IBA 02/06/2004 - "FGF-23 transgenic mice demonstrate hypophosphatemic rickets with reduced expression of sodium phosphate cotransporter type IIa." 04/01/1994 - "Chromosomal localization of the human renal sodium phosphate transporter to chromosome 5: implications for X-linked hypophosphatemia." 01/01/2010 - "Hereditary hypophosphatemic rickets with hypercalciuria is caused by loss-of-function in the type 2c sodium phosphate cotransporter encoded by the SLC34A3 gene. " 11/01/2009 - "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a metabolic disorder due to homozygous loss-of-function mutations in the SLC34A3 gene encoding the renal type IIc sodium-phosphate cotransporter (NaPi-IIc). " 10/01/2008 - "Hereditary hypophosphatemic rickets with hypercalciuria is a rare metabolic disorder associated with mutations in SLC34A3, the gene that encodes the renal sodium phosphate cotransporter NaPi-IIc. "
8.	Fibroblast Growth Factors (Fibroblast Growth Factor)IBA 11/01/2010 - "Circulating fibroblast growth factor (FGF)-23 is variably elevated in individuals with X-linked hypophosphatemia (XLH), and klotho has recently been shown to effect renal phosphate handling, yet limited data are available on circulating FGF23 and klotho in XLH. " 12/01/2001 - "The gene for the renal phosphate wasting disorder autosomal-dominant hypophosphatemic rickets (ADHR) is FGF23, which encodes a secreted protein related to the fibroblast growth factors (FGFs). " 10/01/2013 - "In the last decade, Fibroblast growth factor (FGF) 23 has been shown to be a causative factor of hypophosphatemic rickets/osteomalacia, and considered as potential therapeutic target for this disease. " 08/01/2005 - "Fibroblast Growth Factor (FGF) 23 has been shown to play important roles in the development of hypophosphatemic rickets/osteomalacia. " 12/01/2001 - "Fibroblast growth factor (FGF)-23 and hypophosphatemic rickets/osteomalacia."
9.	Ergocalciferols (Ergocalciferol)FDA LinkGeneric 04/01/1983 - "Ten patients with hypophosphatemic rickets (eight with X-linked familial form) were treated with vitamin D2 (10,000 to 75,000 units per day) and oral phosphate (1.5 to 3.6 gm) for a total of 438 treatment months. " 11/01/1991 - "A patient with hypophosphatemic vitamin D-resistant rickets developed secondary erythrocytosis during treatment with large doses of vitamin D2 and phosphate. " 02/01/1984 - "Radiologic and biochemical abnormalities associated with nutritional hypophosphatemic rickets were discovered in a 945-g preterm infant despite daily supplementation with 800 to 1,600 IU of ergocalciferol (vitamin D2) and an elevated serum 25-hydroxyvitamin D concentration. " 10/30/1980 - "We treated 11 children with vitamin D-resistant rickets with a phosphate mixture either alone (1.2 to 3.6 g per day) or combined with ergocalciferol (vitamin D2, to 50 x 103 IU per day) or with calcitriol (1,25-dihydroxyvitamin D3, 0.25 to 1 microgram per day). " 02/01/1982 - "The efficacy of vitamin D2 and oral phosphorus therapy in X-linked hypophosphatemic rickets and osteomalacia."
10.	Calcifediol (Calcidiol)FDA Link 02/01/1983 - "The effect of extracellular phosphate on the control of 25-hydroxyvitamin D3 24-hydroxylase was studied in normal mice and littermates with X-linked hypophosphatemic rickets (Hyp). " 06/01/1972 - "Treatment of vitamin D-resistant rickets with 25-hydroxycholecalciferol." 01/01/1970 - "25-hydroxycholecalciferol: effects in idiopathic vitamin D-resistant rickets." 09/17/1970 - "Effects of 25-hydroxycholecalciferol in patients with familial hypophosphatemia and vitamin-D-resistant rickets." 04/01/1972 - "These results indicate that (a) 25-hydroxycholecalciferol is highly active in deficiency rickets; (b) a defect in the conversion of vitamin D(3) to its active 25-hydroxy metabolite is probably not the metabolic defect in any of the different types of vitamin D-resistant rickets studied."

Therapies and Procedures

1.	Osteotomy 07/01/2009 - "The purpose of this work is to discuss the management of a 16-year-old patient with X-linked hypophosphatemic rickets at the end-stage of growth, who presented with a shaft fracture of the right femur, treated with alignment osteotomy and fixation, and alignment osteotomy of the contralateral femur in a single surgical stage. " 01/01/1999 - "The effect of osteotomy on bowing and height in children with X-linked hypophosphatemia." 03/01/1995 - "Unilateral external fixation for corrective osteotomies in patients with hypophosphatemic rickets." 10/01/1985 - "Our assessment of the surgical correction of bowleg deformity in eight patients with sex-linked dominant hypophosphatemic rickets showed the best results in patients having staged, proximal tibial osteotomies at completion of growth. " 07/01/2009 - "Residual deformities of hypophosphatemic rickets can be approached with a corrective osteotomy and fixation with a centromedullary nail, external fixators, Ilizarov devices, Kirschner's nails, cast devices, and plates, including epiphysiodesis. "
2.	Aftercare (After-Treatment) 01/01/1997 - "Her symptoms resolved completely after treatment with calcitriol and phosphate solution for hypophosphatemic rickets." 08/01/1997 - "We evaluated growth hormone (GH)/insulin-like growth factor-I (IGF-I) changes in relation to linear growth and biochemical parameters in seven children with X-linked hypophosphatemic rickets before and after treatment with 1,25-dihydroxyvitaminD3 and phosphate therapy for a year or more. " 08/01/1997 - "Growth hormone secretion and serum insulin-like growth factor-I concentration in X-linked hypophosphatemic rickets before and after treatment." 10/01/1989 - "We investigated immunologic function in six cases with hypophosphatemic vitamin D-resistant rickets (VDRR) before and after treatment with 1 alpha-hydroxycholecalciferol (1 alpha(OH) vitamin D3). "
3.	Laser Therapy (Surgery, Laser) 05/01/2003 - "Phakomatosis pigmentokeratotica associated with hypophosphataemic vitamin D-resistant rickets: improvement in phosphate homeostasis after partial laser ablation."
4.	Dental Care 11/01/2011 - "The preliminary data from our study suggests that patients with hypophosphatemic rickets are more prone to periodontal bone loss than the general population and may require a more careful examination by dental care providers."
5.	Oral Administration 04/01/1957 - "Treatment of the vitamin D resistant rickets consists of the oral administration of large doses of vitamin D. " 06/01/2009 - "On the other hand, the patients with chronic hypophosphatemia require the medical treatment with oral administration of calcitriol and neutral phosphate since this condition causes hypophosphatemic rickets/osteomalacia. " 03/01/1991 - "We investigated the acute effects of oral administration of 1,25-dihydroxyvitamin D (1,25-(OH)2D) and phosphate on the major mineral metabolism indexes in six children with vitamin D-resistant rickets treated with a long-term regimen of phosphate and calcitriol. "