Nationwide Turkish Cohort Study of Hypophosphatemic Rickets
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...
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| Format: | Article |
| Language: | English |
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Galenos Yayincilik
2020-06-01
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| Series: | JCRPE |
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http://www.jcrpe.org/archives/archive-detail/article-preview/nationwide-turkish-cohort-study-of-hypophosphatemi/30174
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| _version_ | 1828025833397157888 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Zeynep Şıklar |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T13:08:09Z |
| format | Article |
| id | doaj.art-57157ae9f20b435fb128022ec51d0c16 |
| institution | Directory Open Access Journal |
| issn | 1308-5727 1308-5735 |
| language | English |
| last_indexed | 2024-04-10T13:08:09Z |
| publishDate | 2020-06-01 |
| publisher | Galenos Yayincilik |
| record_format | Article |
| series | JCRPE |
| spelling | doaj.art-57157ae9f20b435fb128022ec51d0c162023-02-15T16:12:49ZengGalenos YayincilikJCRPE1308-57271308-57352020-06-0112215015910.4274/jcrpe.galenos.2019.2019.009813049054Nationwide Turkish Cohort Study of Hypophosphatemic RicketsZeynep Şıklar0Serap Turan1Abdullah Bereket2Firdevs Baş3Tülay Güran4Azad Akberzade5Ayhan Abacı6Korcan Demir7Ece Böber8Mehmet Nuri Özbek9Cengiz Kara10Şükran Poyrazoğlu11Murat Aydın12Aslı Kardelen13Ömer Tarım14Erdal Eren15Nihal Hatipoğlu16Muammer Büyükinan17Nesibe Akyürek18Semra Çetinkaya19Elvan Bayramoğlu20Beray Selver Eklioğlu21Ahmet Uçaktürk22Saygın Abalı23Damla Gökşen24Yılmaz Kor25Edip Ünal26İhsan Esen27Ruken Yıldırım28Onur Akın29Atilla Çayır30Emine Dilek31Birgül Kırel32Ahmet Anık33Gönül Çatlı34Merih Berberoğlu35 Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey Marmara University Pendik Training and Reseach Hospital, Clinic of Pediatric Endocrinology, İstanbul, Turkey Marmara University Pendik Training and Reseach Hospital, Clinic of Pediatric Endocrinology, İstanbul, Turkey İstanbul University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey Marmara University Pendik Training and Reseach Hospital, Clinic of Pediatric Endocrinology, İstanbul, Turkey Marmara University Pendik Training and Reseach Hospital, Clinic of Pediatric Endocrinology, İstanbul, Turkey Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey University of Health Sciences Turkey, Gazi Yaşargil Training and Research Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Turkey Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Endocrinology, Samsun, Turkey İstanbul University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Endocrinology, Samsun, Turkey İstanbul University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey Uludağ University Faculty of Medicine, Department of Pediatric Endocrinology, Bursa, Turkey Uludağ University Faculty of Medicine, Department of Pediatric Endocrinology, Bursa, Turkey Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey Konya Training and Research Hospital, Clinic of Pediatric Endocrinology, Konya, Turkey Konya Training and Research Hospital, Clinic of Pediatric Endocrinology, Konya, Turkey University of Health Sciences Turkey, Ankara Dr. Sami Ulus Obstetrics and Pediatrics Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey University of Health Sciences Turkey, Ankara Dr. Sami Ulus Obstetrics and Pediatrics Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey Necmettin Erbakan University, Meram Faculty of Medicine, Department of Pediatric Endocrinology, Konya, Turkey Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey İstanbul Kartal Dr. Lütfi Kırdar Training and Research Hospital, Clinic of Pediatric Endocrinology, İstanbul, Turkey Ege University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey University of Health Sciences Turkey, Adana Numune Training and Research Hospital, Clinic of Pediatric Endocrinology, Adana, Turkey Dicle University Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakır, Turkey Fırat University Faculty of Medicine, Department of Pediatric Endocrinology, Elazığ, Turkey Diyarbakır Children Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Turkey University of Health Sciences Turkey, Gülhane Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey Erzurum Training and Research Hospital, Clinic of Pediatric Endocrinology, Erzurum, Turkey Trakya University Faculty of Medicine, Department of Pediatric Endocrinology, Edirne, Turkey Eskişehir Osmangazi University Faculty of Medicine, Department of Pediatric Endocrinology, Eskişehir, Turkey Aydın Adnan Menderes University Faculty of Medicine, Department of Pediatric Endocrinology, Aydın, Turkey İzmir Katip Çelebi Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey 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. http://www.jcrpe.org/archives/archive-detail/article-preview/nationwide-turkish-cohort-study-of-hypophosphatemi/30174 hypophosphatemic ricketsphextreatment |
| spellingShingle | 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 Nationwide Turkish Cohort Study of Hypophosphatemic Rickets JCRPE hypophosphatemic rickets phex treatment |
| title | Nationwide Turkish Cohort Study of Hypophosphatemic Rickets |
| title_full | Nationwide Turkish Cohort Study of Hypophosphatemic Rickets |
| title_fullStr | Nationwide Turkish Cohort Study of Hypophosphatemic Rickets |
| title_full_unstemmed | Nationwide Turkish Cohort Study of Hypophosphatemic Rickets |
| title_short | Nationwide Turkish Cohort Study of Hypophosphatemic Rickets |
| title_sort | nationwide turkish cohort study of hypophosphatemic rickets |
| topic | hypophosphatemic rickets phex treatment |
| url |
http://www.jcrpe.org/archives/archive-detail/article-preview/nationwide-turkish-cohort-study-of-hypophosphatemi/30174
|
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