Literature DB >> 29213174

X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review.

Badi Alenazi1,2, M A Maleque Molla1, Abdullah Alshaya1, Mahmoud Saleh1.   

Abstract

Hypophosphatemic rickets is a rare form of rickets that affect children. The diagnosis requires high index of suspicion. We report a case of Hypophosphatemic rickets in 18-month-old Saudi boy presented with delayed walking and lower limb deformity. The diagnosis was confirmed by bone profile, radiological study and genetic testing, which reveled PHEX mutation. The patient was successfully treated by phosphate supplement.

Entities:  

Keywords:  Hypophosphatemic rickets; PHEX gene mutation

Year:  2017        PMID： 29213174      PMCID： PMC5621863     

Source DB:  PubMed          Journal:  Sudan J Paediatr        ISSN： 0256-4408


  20 in total

1.  The effect of recombinant human growth hormone in children with X-linked hypophosphatemia.

Authors:  M G Seikaly; R Brown; M Baum
Journal:  Pediatrics       Date:  1997-11       Impact factor: 7.124

Review 2.  Regulation and function of the FGF23/klotho endocrine pathways.

Authors:  Aline Martin; Valentin David; L Darryl Quarles
Journal:  Physiol Rev       Date:  2012-01       Impact factor: 37.312

Review 3.  The changing face of hypophosphatemic disorders in the FGF-23 era.

Authors:  Janet Y Lee; Erik A Imel
Journal:  Pediatr Endocrinol Rev       Date:  2013-06

4.  Acute biochemical effects of growth hormone treatment compared with conventional treatment in familial hypophosphataemic rickets.

Authors:  L Patel; P E Clayton; C Brain; E Pelekouda; G M Addison; D A Price; M Z Mughal
Journal:  Clin Endocrinol (Oxf)       Date:  1996-06       Impact factor: 3.478

Review 5.  Recombinant growth hormone therapy for X-linked hypophosphatemia in children.

Authors:  Y Huiming; W Chaomin
Journal:  Cochrane Database Syst Rev       Date:  2005-01-25

6.  High iFGF23 level despite hypophosphatemia is one of the clinical indicators to make diagnosis of XLH.

Authors:  Junko Miyamoto Igaki; Makoto Yamada; Yuji Yamazaki; Shinobu Koto; Masako Izawa; Daisuke Ariyasu; Eri Suzuki; Hisashi Hasegawa; Yukihiro Hasegawa
Journal:  Endocr J       Date:  2011-05-19       Impact factor: 2.349

7.  Metabolic control and growth during exclusive growth hormone treatment in X-linked hypophosphatemic rickets.

Authors:  Outi Makitie; Sanna Toiviainen-Salo; Eino Marttinen; Ilkka Kaitila; Etienne Sochett; Ilkka Sipila
Journal:  Horm Res       Date:  2008-01-21

8.  Serum FGF23 levels in normal and disordered phosphorus homeostasis.

Authors:  Thomas J Weber; Shiguang Liu; Olafur S Indridason; L Darryl Quarles
Journal:  J Bone Miner Res       Date:  2003-07       Impact factor: 6.741

9.  Tertiary hyperparathyroidism during high phosphate therapy of familial hypophosphatemic rickets.

Authors:  S A Rivkees; G el-Hajj-Fuleihan; E M Brown; J D Crawford
Journal:  J Clin Endocrinol Metab       Date:  1992-12       Impact factor: 5.958

10.  Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement.

Authors:  Itsuro Endo; Seiji Fukumoto; Keiichi Ozono; Noriyuki Namba; Hiroyuki Tanaka; Daisuke Inoue; Masanori Minagawa; Toshitsugu Sugimoto; Mika Yamauchi; Toshimi Michigami; Toshio Matsumoto
Journal:  Bone       Date:  2008-03-05       Impact factor: 4.398
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  4 in total

1.  Article authored by three generations: International lifetime commitment to child health.

Authors:  Mustafa Abdalla M Salih; Mohammed Osman Swar
Journal:  Sudan J Paediatr       Date:  2017

2.  Burosumab: A new drug to treat hypophosphatemic rickets.

Authors:  Stepan Kutilek
Journal:  Sudan J Paediatr       Date:  2017

3.  Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries.

Authors:  Fahad Al Juraibah; Elham Al Amiri; Mohammed Al Dubayee; Jamal Al Jubeh; Hessa Al Kandari; Afaf Al Sagheir; Adnan Al Shaikh; Salem A Beshyah; Asma Deeb; Abdelhadi Habeb; Manal Mustafa; Hanaa Zidan; M Zulf Mughal
Journal:  Arch Osteoporos       Date:  2021-03-04       Impact factor: 2.617

Review 4.  Effects of Burosumab Treatment on Two Siblings with X-Linked Hypophosphatemia. Case Report and Literature Review.

Authors:  Claudia Maria Jurca; Oana Iuhas; Kinga Kozma; Codruta Diana Petchesi; Dana Carmen Zaha; Marius Bembea; Sanziana Jurca; Corina Paul; Alexandru Daniel Jurca
Journal:  Genes (Basel)       Date:  2022-08-04       Impact factor: 4.141
  4 in total

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