hrp0084p3-681 | Bone | ESPE2015

A Case of Vitamin D Deficient Rickets Showing Resistance to the Treatment of Active Vitamin D: Severe Calcium Deficiency Cause Vitamin D Resistance

Tanaka Hiroyuki , Hasegawa Kosei , Takatsuka Moe , Okahara Chika , Noguchi Yoshie , Takata Tsutomu , Ogura Kazuo

Case presentation: A 2-year-boy was referred tour hospital for the rickets. He was the first son between non-consanguineous parents and fed with breast milk. But after weaning, he was avoided from taking egg, dairy products including cow’s milk. He was also suffered from developmental delay and had strong food preference. He could take only two kinds of foods, steamed rice and soy bean product, tofu. X-ray findings showed typical rachitic change on long bone metaphysis. L...

hrp0084p2-351 | Fat | ESPE2015

Domino Liver Transplantation for the Pre-Emptive Therapy of Compound Heterozygous Familial Hypercholesterolemia: A Case of 2-Year-Old Girl

Tanaka Hiroyuki , Sugawara Daisuke , Tanaka Yasuko , Yoshida Tomoko , Nakao Kanako , Uchida Noboru , Yamamoto Akiko , Fukuda Akinari , Kasahara Mureo , Horikawa Reiko

Background: Patients with homozygous and compound heterozygous familial hypercholesterolemia (FH) have markedly elevated plasma LDL cholesterol (LDL-C) from birth. If untreated, patients develop cardiovascular atherosclerosis resulting in death before the second decade of life. Medication and apheresis are only partially effective in reducing LDL-C levels, and do not significantly improve the prognosis. Liver transplantation (LT) can nearly normalize the cholesterol metabolism...

hrp0084p3-1022 | Growth | ESPE2015

Postnatal Growth and Biochemical Markers of Late Preterm Infants: Prospective Birth Cohort

Yoshida Tomoko , Takahashi Chie , Uchida Noboru , Nakao Kanako , Sugawara Daisuke , Tanaka Yasuko , Tanaka Hiroyuki , Chiba Yuta , Terada Yumiko , Mizutani Kazuko , Naiki Yasuhiro , Horikawa Reiko

Background: Late preterm birth (defined as infants born between 34 and 36 weeks of gestational age) is increasing worldwide. Their postnatal growth has not been fully investigated.Objective and hypotheses: To identify the characteristics of postnatal growth and biochemical markers in late preterm infants.Method: Among 2014 children in the birth cohort study conducted from 2010, 51 children were born late preterm with birth weight a...

hrp0095fc2.4 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Patient-reported outcomes from a randomized open-label phase 3 trial comparing burosumab vs conventional therapy in children with X-linked hypophosphatemia: results from the 24-week treatment extension period

Padidela Raja , Whyte Michael P , Glorieux Francis H , Munns Craig F , Ward Leanne M , Nilsson Ola , Portale Anthony A , Simmons Jill H , Namba Noriyuki , Cheong Hae Il , Pitukcheewanont Pisit , Sochett Etienne , Högler Wolfgang , Muroya Koji , Tanaka Hiroyuki , Gottesman Gary S , Biggin Andrew , Perwad Farzana , Williams Angela , Nixon Annabel , Sun Wei , Chen Angel , Skrinar Alison , Imel Erik A

In a randomized open-label phase 3 trial in 62 children (1–12 years) with X-linked hypophosphatemia (XLH) (NCT 02915705), switching from conventional therapy (oral phosphate plus active vitamin D) to burosumab, a monoclonal antibody targeting fibroblast growth factor 23, significantly improved serum phosphate concentration, rickets, lower-extremity deformities, growth, mobility, and patient-reported outcomes (PROs) at 64 weeks. Children in Europe, USA, Canada, and Australia wh...