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Literature DB >> 21042824

Familial hypophosphatemia: an unusual presentation with low back ache, heel pain, and a limp in a young man, and literature review.

Abstract

A case of young man with low back ache and heel pains who was examined in a rheumatology outpatient and diagnosed as familial hypophosphatemia (FH), probably X-linked (XL), is presented. FH is most commonly transmitted as XL. The role of PHEX gene and fibroblast growth factor 23 is also described.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2010 PMID： 21042824 DOI： 10.1007/s10067-010-1607-z

Source DB: PubMed Journal: Clin Rheumatol ISSN： 0770-3198 Impact factor: 2.980

28 in total

1. Cardiovascular abnormalities in patients with X-linked hypophosphatemia.

Authors: R Nehgme; J T Fahey; C Smith; T O Carpenter
Journal: J Clin Endocrinol Metab Date: 1997-08 Impact factor: 5.958

2. X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults.

Authors: I R Reid; D C Hardy; W A Murphy; S L Teitelbaum; M A Bergfeld; M P Whyte
Journal: Medicine (Baltimore) Date: 1989-11 Impact factor: 1.889

3. 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

4. Prenatal diagnosis for a novel splice mutation of PHEX gene in a large Han Chinese family affected with X-linked hypophosphatemic rickets.

Authors: Guangrong Qiu; Caixia Liu; Jingyi Zhou; Peiyan Liu; Jun Wang; Hongkun Jiang; Zhiyan Hou; Yanyan Zhao; Kailai Sun; Jesse Li-Ling
Journal: Genet Test Mol Biomarkers Date: 2010-06

5. Dental alterations associated with X-linked hypophosphatemic rickets.

Authors: Claudio Maranhão Pereira; Cleverton Roberto de Andrade; Pablo Agustín Vargas; Ricardo Della Coletta; Oslei Paes de Almeida; Márcio Ajudarte Lopes
Journal: J Endod Date: 2004-04 Impact factor: 4.171

6. Hypertension in hypophosphatemic rickets--role of secondary hyperparathyroidism.

Authors: Uri S Alon; Roshanak Monzavi; Marc Lilien; Majid Rasoulpour; Mitchell E Geffner; Ora Yadin
Journal: Pediatr Nephrol Date: 2003-01-18 Impact factor: 3.714

Review 7. Positional cloning of the PEX gene: new insights into the pathophysiology of X-linked hypophosphatemic rickets.

Authors: M J Econs; F Francis
Journal: Am J Physiol Date: 1997-10

2. Changes in Bone Mineral Density Following Conventional Oral Phosphonate Treatment of Hypophosphatemic Osteomalacia: A Non-Randomized Controlled Study.

Authors: Yue Guo; Ying-Hui Zhou; Xian-Ping Wu; Chen-Yi Tang; Min Wang; Zhao-Hui Mo; John A Shepherd; Bennett K Ng; Bo Fan; Hou-De Zhou
Journal: Int J Gen Med Date: 2021-11-08

2 in total

Familial hypophosphatemia: an unusual presentation with low back ache, heel pain, and a limp in a young man, and literature review.

1. Cardiovascular abnormalities in patients with X-linked hypophosphatemia.

2. X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults.

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

4. Prenatal diagnosis for a novel splice mutation of PHEX gene in a large Han Chinese family affected with X-linked hypophosphatemic rickets.

5. Dental alterations associated with X-linked hypophosphatemic rickets.

6. Hypertension in hypophosphatemic rickets--role of secondary hyperparathyroidism.

Review 7. Positional cloning of the PEX gene: new insights into the pathophysiology of X-linked hypophosphatemic rickets.

Review 8. Guide-lines to the treatment of patients with X-linked hypophosphatemic rickets.

9. A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet.

10. Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets.

1. Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review.

2. Changes in Bone Mineral Density Following Conventional Oral Phosphonate Treatment of Hypophosphatemic Osteomalacia: A Non-Randomized Controlled Study.