Abstract
Osteopetrosis is a rare genetic disorder characterized by an increase of bone mass due to defective osteoclast function. Patients typically displayed spontaneous fractures, anemia, and in the most severe forms hepatosplenomegaly and compression of cranial facial nerves leading to deafness and blindness. Osteopetrosis comprises a heterogeneous group of diseases as several forms are known with different models of inheritance and severity from asymptomatic to lethal. This review summarizes the genetic and clinical features of osteopetrosis, emphasizing how recent studies of this disease have contributed to understanding the central role of the skeleton in the whole body physiology. In particular, the interplay of bone with the stomach, insulin metabolism, male fertility, the immune system, bone marrow, and fat is described.
| Original language | English |
|---|---|
| Article number | 372156 |
| Journal | International Journal of Endocrinology |
| Volume | 2015 |
| DOIs | |
| Publication status | Published - 2015 |
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ASJC Scopus subject areas
- Endocrine and Autonomic Systems
- Endocrinology
- Endocrinology, Diabetes and Metabolism
Cite this
Osteopetrosis and its relevance for the discovery of new functions associated with the skeleton. / Coudert, Amélie E.; De Vernejoul, Marie Christine; Muraca, Maurizio; Del Fattore, Andrea.
In: International Journal of Endocrinology, Vol. 2015, 372156, 2015.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Osteopetrosis and its relevance for the discovery of new functions associated with the skeleton
AU - Coudert, Amélie E.
AU - De Vernejoul, Marie Christine
AU - Muraca, Maurizio
AU - Del Fattore, Andrea
PY - 2015
Y1 - 2015
N2 - Osteopetrosis is a rare genetic disorder characterized by an increase of bone mass due to defective osteoclast function. Patients typically displayed spontaneous fractures, anemia, and in the most severe forms hepatosplenomegaly and compression of cranial facial nerves leading to deafness and blindness. Osteopetrosis comprises a heterogeneous group of diseases as several forms are known with different models of inheritance and severity from asymptomatic to lethal. This review summarizes the genetic and clinical features of osteopetrosis, emphasizing how recent studies of this disease have contributed to understanding the central role of the skeleton in the whole body physiology. In particular, the interplay of bone with the stomach, insulin metabolism, male fertility, the immune system, bone marrow, and fat is described.
AB - Osteopetrosis is a rare genetic disorder characterized by an increase of bone mass due to defective osteoclast function. Patients typically displayed spontaneous fractures, anemia, and in the most severe forms hepatosplenomegaly and compression of cranial facial nerves leading to deafness and blindness. Osteopetrosis comprises a heterogeneous group of diseases as several forms are known with different models of inheritance and severity from asymptomatic to lethal. This review summarizes the genetic and clinical features of osteopetrosis, emphasizing how recent studies of this disease have contributed to understanding the central role of the skeleton in the whole body physiology. In particular, the interplay of bone with the stomach, insulin metabolism, male fertility, the immune system, bone marrow, and fat is described.
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UR - http://www.scopus.com/inward/citedby.url?scp=84926363018&partnerID=8YFLogxK
U2 - 10.1155/2015/372156
DO - 10.1155/2015/372156
M3 - Article
AN - SCOPUS:84926363018
VL - 2015
JO - International Journal of Endocrinology
JF - International Journal of Endocrinology
SN - 1687-8337
M1 - 372156
ER -