JCRPE (Jun 2020)
Nationwide Turkish Cohort Study of Hypophosphatemic Rickets
- Zeynep Şıklar,
- Serap Turan,
- Abdullah Bereket,
- Firdevs Baş,
- Tülay Güran,
- Azad Akberzade,
- Ayhan Abacı,
- Korcan Demir,
- Ece Böber,
- Mehmet Nuri Özbek,
- Cengiz Kara,
- Şükran Poyrazoğlu,
- Murat Aydın,
- Aslı Kardelen,
- Ömer Tarım,
- Erdal Eren,
- Nihal Hatipoğlu,
- Muammer Büyükinan,
- Nesibe Akyürek,
- Semra Çetinkaya,
- Elvan Bayramoğlu,
- Beray Selver Eklioğlu,
- Ahmet Uçaktürk,
- Saygın Abalı,
- Damla Gökşen,
- Yılmaz Kor,
- Edip Ünal,
- İhsan Esen,
- Ruken Yıldırım,
- Onur Akın,
- Atilla Çayır,
- Emine Dilek,
- Birgül Kırel,
- Ahmet Anık,
- Gönül Çatlı,
- Merih Berberoğlu
Affiliations
- Zeynep Şıklar
- Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
- Serap Turan
- Marmara University Pendik Training and Reseach Hospital, Clinic of Pediatric Endocrinology, İstanbul, Turkey
- Abdullah Bereket
- Marmara University Pendik Training and Reseach Hospital, Clinic of Pediatric Endocrinology, İstanbul, Turkey
- Firdevs Baş
- İstanbul University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
- Tülay Güran
- Marmara University Pendik Training and Reseach Hospital, Clinic of Pediatric Endocrinology, İstanbul, Turkey
- Azad Akberzade
- Marmara University Pendik Training and Reseach Hospital, Clinic of Pediatric Endocrinology, İstanbul, Turkey
- Ayhan Abacı
- Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey
- Korcan Demir
- Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey
- Ece Böber
- Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey
- Mehmet Nuri Özbek
- University of Health Sciences Turkey, Gazi Yaşargil Training and Research Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Turkey
- Cengiz Kara
- Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Endocrinology, Samsun, Turkey
- Şükran Poyrazoğlu
- İstanbul University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
- Murat Aydın
- Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Endocrinology, Samsun, Turkey
- Aslı Kardelen
- İstanbul University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
- Ömer Tarım
- Uludağ University Faculty of Medicine, Department of Pediatric Endocrinology, Bursa, Turkey
- Erdal Eren
- Uludağ University Faculty of Medicine, Department of Pediatric Endocrinology, Bursa, Turkey
- Nihal Hatipoğlu
- Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey
- Muammer Büyükinan
- Konya Training and Research Hospital, Clinic of Pediatric Endocrinology, Konya, Turkey
- Nesibe Akyürek
- Konya Training and Research Hospital, Clinic of Pediatric Endocrinology, Konya, Turkey
- Semra Çetinkaya
- University of Health Sciences Turkey, Ankara Dr. Sami Ulus Obstetrics and Pediatrics Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
- Elvan Bayramoğlu
- University of Health Sciences Turkey, Ankara Dr. Sami Ulus Obstetrics and Pediatrics Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
- Beray Selver Eklioğlu
- Necmettin Erbakan University, Meram Faculty of Medicine, Department of Pediatric Endocrinology, Konya, Turkey
- Ahmet Uçaktürk
- Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
- Saygın Abalı
- İstanbul Kartal Dr. Lütfi Kırdar Training and Research Hospital, Clinic of Pediatric Endocrinology, İstanbul, Turkey
- Damla Gökşen
- Ege University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey
- Yılmaz Kor
- University of Health Sciences Turkey, Adana Numune Training and Research Hospital, Clinic of Pediatric Endocrinology, Adana, Turkey
- Edip Ünal
- Dicle University Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakır, Turkey
- İhsan Esen
- Fırat University Faculty of Medicine, Department of Pediatric Endocrinology, Elazığ, Turkey
- Ruken Yıldırım
- Diyarbakır Children Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Turkey
- Onur Akın
- University of Health Sciences Turkey, Gülhane Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
- Atilla Çayır
- Erzurum Training and Research Hospital, Clinic of Pediatric Endocrinology, Erzurum, Turkey
- Emine Dilek
- Trakya University Faculty of Medicine, Department of Pediatric Endocrinology, Edirne, Turkey
- Birgül Kırel
- Eskişehir Osmangazi University Faculty of Medicine, Department of Pediatric Endocrinology, Eskişehir, Turkey
- Ahmet Anık
- Aydın Adnan Menderes University Faculty of Medicine, Department of Pediatric Endocrinology, Aydın, Turkey
- Gönül Çatlı
- İzmir Katip Çelebi Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey
- Merih Berberoğlu
- Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
- DOI
- https://doi.org/10.4274/jcrpe.galenos.2019.2019.0098
- Journal volume & issue
-
Vol. 12,
no. 2
pp. 150 – 159
Abstract
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 PTH 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.
Keywords