A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome
Standard
A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome. / Merz, Lea Maria; Buerger, Florian; Ziegelasch, Niels; Zenker, Martin; Wieland, Ilse; Lipek, Tobias; Wallborn, Tillmann; Terliesner, Nicolas; Prenzel, Freerk; Siekmeyer, Manuela; Dittrich, Katalin.
In: FRONT ENDOCRINOL, Vol. 13, 2022, p. 866831.Research output: SCORING: Contribution to journal › Case report › Research › peer-review
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome
AU - Merz, Lea Maria
AU - Buerger, Florian
AU - Ziegelasch, Niels
AU - Zenker, Martin
AU - Wieland, Ilse
AU - Lipek, Tobias
AU - Wallborn, Tillmann
AU - Terliesner, Nicolas
AU - Prenzel, Freerk
AU - Siekmeyer, Manuela
AU - Dittrich, Katalin
N1 - Copyright © 2022 Merz, Buerger, Ziegelasch, Zenker, Wieland, Lipek, Wallborn, Terliesner, Prenzel, Siekmeyer and Dittrich.
PY - 2022
Y1 - 2022
N2 - Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and bone abnormalities. Cutaneous-skeletal hypophosphatemia syndrome (CSHS) constitutes a specific sub-entity in which elevated levels of fibroblast growth factor-23 cause hypophosphatemic rickets that are, to date, not amenable to causal therapy. Here, we report the first long-term follow-up of causal treatment with burosumab in a 3-year-old female patient with CSHS. 4 weeks after initiation of burosumab treatment, serum phosphate normalized to age-appropriate levels. Furthermore, long-term follow-up of 42 months revealed significant improvement of linear growth and gross physical functions, including respiratory insufficiency. Radiographic rickets severity as well as subjective bone pain were strongly reduced, and no side effects were observed over the course of treatment. In summary, we, here, report about a successful treatment of hypophosphatemic rickets in CSHS with burosumab over the time course of 42 months. In our patient, burosumab showed convincing efficacy and safety profile, without any loss of effect or increase of dose.
AB - Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and bone abnormalities. Cutaneous-skeletal hypophosphatemia syndrome (CSHS) constitutes a specific sub-entity in which elevated levels of fibroblast growth factor-23 cause hypophosphatemic rickets that are, to date, not amenable to causal therapy. Here, we report the first long-term follow-up of causal treatment with burosumab in a 3-year-old female patient with CSHS. 4 weeks after initiation of burosumab treatment, serum phosphate normalized to age-appropriate levels. Furthermore, long-term follow-up of 42 months revealed significant improvement of linear growth and gross physical functions, including respiratory insufficiency. Radiographic rickets severity as well as subjective bone pain were strongly reduced, and no side effects were observed over the course of treatment. In summary, we, here, report about a successful treatment of hypophosphatemic rickets in CSHS with burosumab over the time course of 42 months. In our patient, burosumab showed convincing efficacy and safety profile, without any loss of effect or increase of dose.
KW - Antibodies, Monoclonal, Humanized
KW - Child, Preschool
KW - Familial Hypophosphatemic Rickets/complications
KW - Female
KW - Humans
KW - Hypophosphatemia/chemically induced
KW - Rickets, Hypophosphatemic
KW - Syndrome
U2 - 10.3389/fendo.2022.866831
DO - 10.3389/fendo.2022.866831
M3 - Case report
C2 - 35600592
VL - 13
SP - 866831
JO - FRONT ENDOCRINOL
JF - FRONT ENDOCRINOL
SN - 1664-2392
ER -
