Hypophosphatemic Rickets

A disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; resulting from lack of phosphate reabsorption by the kidneys and possible defects in vitamin D metabolism.

Also Known As:

Rickets, Hypophosphatemic; Acquired Vitamin D-Resistant Rickets; Hypophosphatemia, Vitamin D-Resistant Rickets; Hypophosphatemic Vitamin D-Resistant Rickets; Acquired Vitamin D Resistant Rickets; Hypophosphatemic Ricket; Hypophosphatemic Vitamin D Resistant Rickets; Ricket, Hypophosphatemic; Rickets, Vitamin D Resistant; Vitamin D-Resistant Rickets; Rickets, Vitamin D-Resistant

Networked: 500 relevant articles (14 outcomes, 29 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Neoplasms (Cancer)
2.	Congenital Abnormalities (Deformity)
3.	Osteoporosis
4.	Oncogenic osteomalacia
5.	Epidermal Nevus

Experts

1.	Fukumoto, Seiji: 16 articles (12/2021 - 07/2002)
2.	Feng, Jian Q: 13 articles (01/2020 - 11/2006)
3.	Lu, Yongbo: 9 articles (01/2021 - 11/2006)
4.	Carpenter, Thomas O: 8 articles (01/2022 - 02/2006)
5.	Kinoshita, Yuka: 7 articles (01/2022 - 08/2012)
6.	Qin, Chunlin: 7 articles (01/2021 - 01/2009)
7.	Yuan, Baozhi: 7 articles (05/2016 - 11/2006)
8.	Fujita, Toshiro: 6 articles (08/2012 - 02/2004)
9.	Braddock, Demetrios T: 5 articles (01/2022 - 01/2021)
10.	Wolf, Myles: 5 articles (10/2020 - 09/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hypophosphatemic Rickets:

1.	Phosphates (Orthophosphate)IBA 01/01/2021 - "Our previous studies revealed that inactivation of Fam20c in mice led to hypophosphatemic rickets and that high phosphate (hPi) diet significantly improved the development of the skeleton in Fam20c-deficient mice. " 10/01/2020 - "Hypophosphatemic rickets is caused by renal phosphate wasting that is most commonly due to X-linked dominant mutations in PHEX. " 04/01/2020 - "X‑linked hypophosphatemic rickets (XLH, OMIM #307800) is a rare genetic metabolic disorder caused by dysregulation of fibroblast-like growth factor 23 (FGF23) leading to profound reduction in renal phosphate reabsorption. " 01/01/2020 - "Hypophosphatemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5, SLC9A3R1, SLC34A1, or SLC34A3. " 01/01/2020 - "Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. "
2.	Vitamin D FDA LinkGeneric 03/23/2020 - "We believe that the constellation of clinical and radiographic findings of MDSC might look similar to vitamin D resistant rickets; hence, genetic analysis is needed to overcome diagnostic challenges faced by physicians to avoid unnecessary vitamin D supplementation in individuals. " 01/01/2010 - "It also highlights the fact that the presence of concomitant vitamin D insufficiency should not preclude the diagnosis of familial forms of hypophosphatemic rickets, especially if more than one family member is affected." 08/01/2008 - "Metabolic and orthopedic management of X-linked vitamin D-resistant hypophosphatemic rickets." 01/01/2004 - "Most cases result from hereditary inborn errors of vitamin D metabolism or end-organ unresponsiveness as is exemplified in this case of hypophosphatemic rickets." 09/15/1996 - "To evaluate vitamin D concentrations in juvenile llamas and alpacas with hypophosphatemic rickets. "
3.	Calcitriol (Calcijex)FDA LinkGeneric 09/01/2001 - "The patient exhibited vitamin D resistant rickets, which was confirmed by an absent response of her fibroblasts to 1,25-dihydroxyvitamin D3 in vitro. " 11/01/1987 - "Myeloid progenitors from the bone marrow of patients with vitamin D resistant rickets (type II) fail to respond to 1,25(OH)2D3." 06/01/1987 - "In contrast, cells from a HTLV-1 transformed T lymphocyte line (Ab-VDR) established from a patient with vitamin D-resistant rickets type II with undetectable 1,25(OH)2D3 cellular receptors are resistant to the action of 1,25(OH)2D3. " 03/01/1984 - "[Treatment of hereditary hypophosphatemic vitamin D resistant rickets with 1,25 dihydroxycholecalciferol--a new therapeutic possibility]." 04/01/1980 - "Vitamin D--resistant rickets: end-organ unresponsiveness to 1,25(OH)2D3."
4.	Fibroblast Growth Factor-23IBA 07/15/2023 - "To study the value of serum fibroblast growth factor 23 (FGF23) in the diagnosis of hypophosphatemic rickets in children. " 07/15/2023 - "[Value of serum fibroblast growth factor 23 in diagnosis of hypophosphatemic rickets in children]." 08/01/2022 - "We screened 66 patients with hypophosphatemic rickets referred to this center between May 2015 and July 2019 using whole exome sequencing (WES) in addition to the measurement of their intact serum fibroblast growth factor 23 (FGF23) levels. " 01/01/2020 - "A 13-yr-old female, who presented with hypophosphatemic rickets, elevated serum intact fibroblast growth factor 23 (FGF23) levels, and a nodule in the back, received a diagnosis of TIO because of the benign PMT histopathology. " 01/01/2019 - "C-Terminal Fibroblast Growth Factor-23 Levels in Non-Nutritional Hypophosphatemic Rickets."
5.	Fibroblast Growth Factor Receptors (Fibroblast Growth Factor Receptor)IBA 01/01/2022 - "Mouse studies have suggested that enhanced FGF receptor (FGFR) signaling is involved in the overproduction of FGF23 in PHEX-deficient X-linked hypophosphatemic rickets (XLH) and DMP1-deficient autosomal recessive hypophosphatemic rickets type 1. Since FGFR is involved in the transduction of signals evoked by extracellular Pi, Pi sensing in osteocytes may be abnormal in these diseases. " 04/01/2013 - "Pharmacological inhibition of fibroblast growth factor (FGF) receptor signaling ameliorates FGF23-mediated hypophosphatemic rickets." 10/01/2017 - "Because HMWFGF2 was upregulated in bones of Hyp mice and abnormal FGF receptor (FGFR) signaling is important in XLH, HMWTg mice were used to examine the effect of the FGFR inhibitor NVP-BGJ398, now in clinical trials for cancer therapy, on hypophosphatemic rickets. " 01/01/2018 - "Mice overexpressing high molecular weight FGF2 isoforms (HMWTg) in osteoblast lineage phenocopy human X-linked hypophosphatemic rickets (XLH) and a Hyp murine model of XLH demonstrating increased FGF23/FGF receptor signaling and hypophosphatemic rickets/osteomalacia. " 10/01/2017 - "Transgenic mice harboring high molecular weight fibroblast growth factor (FGF)2 isoforms (HMWTg) in osteoblast lineage cells phenocopy human X-linked hypophosphatemic rickets (XLH) and Hyp murine model of XLH demonstrating increased FGF23/FGF receptor signaling and hypophosphatemic rickets. "
6.	burosumabIBA 01/01/2022 - "Burosumab Treatment for Autosomal Recessive Hypophosphatemic Rickets Type 1 (ARHR1)." 01/01/2022 - "In summary, we, here, report about a successful treatment of hypophosphatemic rickets in CSHS with burosumab over the time course of 42 months. " 01/01/2017 - "Burosumab: A new drug to treat hypophosphatemic rickets." 12/01/2022 - "A case report to assess the safety and efficacy of Burosumab, an investigational antibody to FGF23, in a single pediatric patient with Epidermal Nevus Syndrome and associated hypophosphatemic rickets." 01/01/2024 - "Changes of the lower limb deformity in children with FGF23-related hypophosphatemic rickets treated with Burosumab: a single-center prospective study."
7.	Proteins (Proteins, Gene)FDA Link 10/01/2023 - "Among them, autosomal recessive hypophosphatemic rickets type 1 (ARHR1), caused by a homozygous mutation of dentin matrix protein 1 (DMP1), is extremely rare, with only 30 reported patients. " 12/01/2020 - "Autosomal recessive hypophosphatemic rickets type 1 (ARHR1) was reported to be caused by homozygous mutation of dentin matrix protein 1 (DMP1). " 01/01/2017 - "Mutations in the dentin matrix protein 1 (DMP1) gene cause autosomal recessive hypophosphatemic rickets (ARHR). " 02/01/2014 - "For example, mutations in dentin matrix protein 1 (DMP-1) result in increased FGF23 and hypophosphatemic rickets. " 12/01/2012 - "Deletion or mutation of dentin matrix protein 1 (DMP1) leads to hypophosphatemic rickets and defects within the dentin. "
8.	Calcifediol (Calcidiol)FDA Link 05/31/1975 - "Vitamin D-resistant rickets and 25-hydroxycholecalciferol." 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." 02/01/1975 - "The long-term effects of the vitamin D metabolite, 25-hydroxycholecalciferol (25-HCC), were evaluated in 2 children with hypophosphatemic vitamin D-resistant rickets. "
9.	alfacalcidolIBA 12/01/2021 - "Herein, we describe a case of an Emirati girl with CSHS, whose hypophosphatemic rickets and osteomalcic pseudofractures and dysplastic bony lesions failed to recover due to poor adherence to treatment with oral phosphate supplements and alfacalcidol (conventional treatment). " 01/01/2014 - "A 53-year-old woman with genetically confirmed X-linked dominant hypophosphatemic rickets developed SHPT after 25 years of conventional treatment with alfacalcidol and phosphate supplements. " 04/01/1989 - "Hypophosphatemic vitamin D resistant rickets treatment with one alpha hydroxy vitamin D3." 03/01/1990 - "These results demonstrate that 1 alpha-hydroxyvitamin D3 is superior to vitamin D or calcidiol for improvement of stature of patients with hypophosphatemic vitamin D-resistant rickets, and indicate the importance of parental height in determining the adult height of affected girls." 07/01/2014 - "Hypophosphatemic rickets was treated with alfacalcidol and phosphate solution. "
10.	Fibroblast Growth Factors (Fibroblast Growth Factor)IBA 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." 04/01/2013 - "Pharmacological inhibition of fibroblast growth factor (FGF) receptor signaling ameliorates FGF23-mediated hypophosphatemic rickets." 12/01/2021 - "Fibroblast growth factor (FGF) 23 is a hormone that regulates serum phosphate levels, the excess action of which causes chronic hypophosphatemic rickets/osteomalacia. "

Therapies and Procedures

1.	Therapeutics 01/01/2014 - "We conclude that Phosribbon(®) is a safe and effective treatment for patients with hypophosphatemic rickets and that dose adjustment in this therapy can be guided by the results of regular clinical examination and renal ultrasonography. " 02/01/2016 - "[FGF23 related hypophosphatemic rickets:current therapy and unresolved issues]." 02/01/2006 - "[X-linked hypophosphatemic vitamin D resistant rickets: Pathogenesis, pathophysiology, and therapy]." 01/01/2003 - "Specific therapy of hypophosphatemic rickets is straightforward and efficient in preventing late complications like growth retardation. " 07/01/2002 - "Evaluation of aggressive pulp therapy in a population of vitamin D-resistant rickets patients: a follow-up of 4 cases."
2.	Osteotomy 07/07/2023 - "We retrospectively reviewed the medical records of 16 patients with hypophosphatemic rickets aged 5-20 years and who had undergone corrective osteotomies between January 2005 and March 2019. " 12/01/2021 - "This report describes a case of successful Le Fort I osteotomy with bilateral mandibular sagittal split osteotomies with concurrent medical management in an 18-year-old female with hypophosphatemic rickets. " 12/01/2021 - "Maxillomandibular osteotomy healing in a patient with hypophosphatemic rickets." 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. "
3.	Aftercare (After-Treatment) 12/01/2015 - "Hypophosphatemic rickets developed after treatment with etidronate disodium in a patient with generalized arterial calcification in infancy." 01/01/1997 - "Her symptoms resolved completely after treatment with calcitriol and phosphate solution for hypophosphatemic rickets." 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). "
4.	Laser Therapy (Surgery, Laser) 05/01/2003 - "Phakomatosis pigmentokeratotica associated with hypophosphataemic vitamin D-resistant rickets: improvement in phosphate homeostasis after partial laser ablation."
5.	Punctures 10/19/1977 - "Micropuncture study of renal phosphorus transport in hypophosphatemic vitamin D resistant rickets mice."