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Nationwide Turkish cohort study of hypophosphatemic rickets
- Source :
- Journal of Clinical Research in Pediatric Endocrinology, JCRPE, Vol 12, Iss 2, Pp 150-159 (2020)
- Publication Year :
- 2019
- Publisher :
- Galenos Yayıncılık, 2019.
-
Abstract
- Çalışmada 24 yazar bulunmaktadır. Bu yazarlardan sadece Bursa Uludağ Üniversitesi mensuplarının girişleri yapılmıştır. Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options. Methods: Here we present nationwide initial and follow-up data on HR. Results: From 24 centers, 166 patients were included in the study. Genetic analysis (n = 75) showed PHEX mutation in 80% of patients. The mean follow-up period was 6.7 +/- 2.4 years. During the first 3-years of treatment (n = 91), mild increase in phosphate, decrease in alkaline phosphatase and elevation in parathyroid hormone (PTH) levels were detected. The height standard deviation scores were -2.38, -2.77, -2.72, -2.47 at initial, 1st, 2nd and 3rd year of treatment, respectively (p > 0.05). On follow-up 36% of the patients showed complete or significant improvement in leg deformities and these patients had similar phosphate levels at presentation with better levels in 1st and 2nd years of treatment; even the treatment doses of phosphate were similar. Furthermore, 27 patients developed nephrocalcinosis (NC), the patients showed no difference in biochemical differences at presentation and follow-up, but 3rd year Pill was higher. However, higher treatment doses of phosphate and calcitriol were Found in the NC group. Conclusion: HR treatment and follow-up is challenging and our results showed higher treatment doses were associated with NC without any change in serum phosphate levels, suggesting that giving higher doses led to increased phosphaturia, probably through stimulation of fibroblast growth factor 23. However, higher calcitriol doses could improve bone deformities. Safer and more efficacious therapies are needed.
- Subjects :
- Fibroblast growth factor 23
Male
Turkey
Endocrinology, Diabetes and Metabolism
Parathyroid hormone
Gene sequence
Treatment response
Gastroenterology
Pediatrics
Gene
0302 clinical medicine
Endocrinology
Medicine
Child
Endocrinology & metabolism
Linear growth
Dentin matrix protein 1
Depression
Parathyroid hyperplasia
Phosphorus
Hip dysplasia
Management
Osteotomy
Hypophosphatemic rickets
Tooth abscess
Blood
Cohort studies
Cohort analysis
Cohort study
Human
medicine.medical_specialty
Entesopathy
Phosphate
Major clinical study
Article
0-Belirlenecek
03 medical and health sciences
Sodium phosphate cotransporter 2c
Alkaline phosphatase
Genetic screening
Wrist disease
Genetics
Humans
Short children
Cross-sectional study
Growth-hormone treatment
Questionnaire
PHEX
Puberty
Infant
Frontal bossing
lcsh:Pediatrics
Follow up
medicine.disease
030104 developmental biology
Albright syndrome
Calcium-regulating hormones and agents
0301 basic medicine
Cystinosis
Rickets, hypophosphatemic
lcsh:Diseases of the endocrine glands. Clinical endocrinology
Bone pain
Turkey (bird)
PHEX protein
Hyperparathyroidism
Phosphaturia
Genetic analysis
Kidney tubule absorption
lcsh:RJ1-570
Tyrosinemia
Combination drug therapy
Hypertension
Lordosis
Original Article
Female
Nephrocalcinosis
medicine.drug
Phosphate regulating neutral endopeptidase
Kidney tubule disorder
Ligament disease
Calcitriol
Adolescent
Child, preschool
CLCN5 gene
Oncogenic Osteomalacia
Familial Hypophosphatemic Rickets
Cancer
Drug therapy, combination
030209 endocrinology & metabolism
Administration and dosage
Follow-up studies
Widening of wrist
Phosphates
PHEX phosphate regulating neutral endopeptidase
Internal medicine
Valgus knee
Gene mutation
Growth hormone
Craniofacial synostosis
Outcome assessment, health care
Kidney calcification
Prepuberty
lcsh:RC648-665
business.industry
Treatment
Hypophosphatemic Rickets
25 hydroxyvitamin D
Clinical feature
Preschool child
Pediatrics, Perinatology and Child Health
business
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Journal of Clinical Research in Pediatric Endocrinology, JCRPE, Vol 12, Iss 2, Pp 150-159 (2020)
- Accession number :
- edsair.doi.dedup.....a0e1f85da3399c9bfa3c4fa363aaad19