Format

Send to

Choose Destination
J Clin Res Pediatr Endocrinol. 2019 Sep 13. doi: 10.4274/jcrpe.galenos.2019.2019.0098. [Epub ahead of print]

Nationwide Hypophosphatemic Rickets Cohort Study

Author information

1
Ankara University School of Medicine, Department of Pediatric Endocrinology
2
Marmara University Pendik Education and Reseach Hospital, Department of Pediatric Endocrinology
3
Istanbul University School of Medicine, Department of Pediatric Endocrinology
4
Dokuz Eylül University School of Medicine, Department of Pediatric Endocrinology
5
Ministry of Health University Gazi Yaşargil Education and Research Hospital
6
Samsun Ondokuz Mayıs School of Medicine, Department of Pediatric Endocrinology
7
Uludag School of Medicine, Department of Pediatric Endocrinology
8
Erciyes School of Medicine, Department of Pediatric Endocrinology
9
Konya Education and Research Hospital
10
Dr Sami Ulus Obstetrics and Pediatrics Education and Research Hospital
11
Necmettin Erbakan University Meram School of Medicine Department of Pediatric Endocrinology
12
Ankara Pediatrics and Hematology Oncology Education and Research Hospital
13
Kartal Dr Lütfi Kırdar Education and Research Hospital
14
Ege School of Medicine, Department of Pediatric Endocrinology
15
SBÜ Adana Numune Education and Research Hospital
16
Dicle School of Medicine, Department of Pediatric Endocrinology
17
Fırat School of Medicine, Department of Pediatric Endocrinology
18
Diyarbakır Children Hospital
19
Gülhane Education and Research Hospital
20
Erzurum Education and Research Hospital
21
Trakya School of Medicine, Department of Pediatric Endocrinology
22
Eskişehir Osmangazi School of Medicine, Department of Pediatric Endocrinology
23
Aydın Adnan Menderes School of Medicine, Department of Pediatric Endocrinology
24
Katip Çelebi School of Medicine, Department of Pediatric Endocrinology

Abstract

Aim:

Hypophosphatemic rickets (HR) is a rare renal phosphate wasting disorder commonly related to X-linked form, caused by PHEX mutations and its treatment and follow-up is challenging due to imperfect treatment options. Here we presented nationwide data on HR with initial and follow-up data on the patients.

Results:

From 24 centers, 166 patients were included in the study data. Genetic analysis (n:75) showed PHEX mutation in 80% patients. The mean follow-up period of the patients was 6.7± 2.4 years. During first 3 year treatment (n:91), mild increase in phosphate , decrease in ALP and, elevation in PTH levels had been detected. The height SDS were -2.38, -2.77, -2.72, -2.47 at intitial, 1st, 2nd and 3rd year of treatment, respectively (p>0.05). In 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, the patients showed no difference in biochemical differences in presentation and follow-up, but 3rd year PTH was higher, however, higher treatment dose of phosphate and calcitriol has been detected in nephrocalcinosis group.

Conclusion:

HR treatment and follow-up is challenging and our results showed higher treatment doses leading nephrocalcinosis without any change in serum levels, suggesting given higher doses lead higher phoshaturia probably through the stimulation FGF23. However, higher calcitriol doses could improve bone deformities. Safer and more efficacious therapies are needed.

KEYWORDS:

hypophosphatemic rickets; PHEX; treatment

Free full text

Supplemental Content

Full text links

Icon for Galenos Yayinevi
Loading ...
Support Center