Hematopoietic stem cell transplantation, a curative approach in infantile osteopetrosis

Schulz, Ansgar; Moshous, Despina

doi:10.1016/j.bone.2022.116634

Cited by 7 publications

(4 citation statements)

References 48 publications

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“…Osteopetrosis (OP) comprises a group of rare hereditary bone diseases resulting in bones that are denser, heavier, and more fragile than normal, much like glass is hard but fragile [ 1 ]. Osteopetrosis was first described in 1904, by the German radiologist, Heinrich Albers-Schönberg, who discovered a benign subtype, known as autosomal dominant osteopetrosis (ADO) [ 2 , 3 ].…”

Section: Introductionmentioning

confidence: 99%

“…Palagano et al [ 10 ] classified the Västerbotten subtype as ARO, due to its severity; however, Stattin et al [ 6 ] argued that, because this subtype is not fatal until later childhood, it should be classified as IARO. Hematopoietic stem cell transplantation (HSCT) treatment is critical for preventing disease progression and early death [ 3 , 6 , 10 ].…”

Section: Introductionmentioning

confidence: 99%

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Successful complete oral rehabilitation of a patient with osteopetrosis with extensive pre-treatments, bone grafts, dental implants and fixed bridges: a multidisciplinary case report

Kelk,

Fasth,

Holgerson

et al. 2023

BMC Oral Health

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Background Osteopetrosis comprises a group of inherited disorders that are rare and result in abnormal bone structure. Bone remodeling is extremely inhibited because osteoclasts are nonfunctional or lacking. This condition causes overgrowth of bone with disappearance of the bone marrow, leading to aplastic anemia; obstruction of nerve passages in the skull leads to blindness and often hearing impairment. In most cases, osteopetrosis results in oral complications such as tooth deformation, hypomineralization, and delayed or absent tooth eruption. The only curative treatment is hematopoietic stem cell transplantation (HSCT). The main treatment of the oral complications during childhood and adolescence consists in protecting the erupted teeth against caries disease through prophylactic treatment aimed at optimal oral hygiene through frequent regular dental visits throughout life. Many patients with osteopetrosis require major oral rehabilitation to treat complications of the disease. Improved results of HSCT increase the likelihood that dental professionals will encounter patients with osteopetrosis. Case presentation In this case report, we show that individuals with osteopetrosis who have severe oral complications can be treated successfully if they are treated for osteopetrosis at an early age. The boy had his dental care in pedodontics, and regular multidisciplinary meetings were held for future treatment planning. At the age of 15, he was then referred for rehabilitation. The initial evaluations revealed no further growth in the alveolar bone. The rehabilitation was done stepwise, with extraction of malformed and malpositioned teeth. Initially, the patient received a removable partial denture followed by reconstruction of the width of the alveolar process, titanium implants, temporary fixed bridges, and finally screw-retained titanium–ceramic bridges with titanium frames for the upper and lower jaws. Conclusions The three-year follow-up after loading indicated a stable marginal bone level and optimal oral hygiene as a result of frequent professional oral hygiene care. The patient showed no signs of symptoms from the temporomandibular joint and has adapted to the new jaw relation without any functional or phonetical issues.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Successful complete oral rehabilitation of a patient with osteopetrosis with extensive pre-treatments, bone grafts, dental implants and fixed bridges: a multidisciplinary case report

Kelk,

Fasth,

Holgerson

et al. 2023

BMC Oral Health

View full text Add to dashboard Cite

show abstract

“…Palagano et al (10) classi ed the Västerbotten subtype as ARO, due to its severity; however, Stattin et al (6) argued that, because this subtype is not fatal until later childhood, it should be classi ed as IARO. Hematopoietic stem cell transplantation (HSCT) treatment is critical for preventing disease progression and early death (3,6,10).…”

Section: Introductionmentioning

confidence: 99%

“…Osteopetrosis (OP) is a rare hereditary bone disease resulting in bones that are denser, heavier, and more fragile than normal, much like glass is hard but fragile (1). Osteopetrosis was rst described in 1904, by the German radiologist, Heinrich Albers-Schönberg, who discovered a benign subtype, known as autosomal dominant osteopetrosis (ADO) (2,3).…”

Section: Introductionmentioning

confidence: 99%

Successful complete oral rehabilitation of a patient with osteopetrosis with extensive pre-treatments, bone grafts, dental implants and fixed bridges: a multidisciplinary case report

Kelk

Fasth

Holgerson

et al. 2023

Preprint

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Background: Osteopetrosis is a rare hereditary bone disease resulting in bone that is denser, heavier, and more fragile. Bone remodeling is extremely inhibited because osteoclasts are nonfunctional or lacking. This condition causes overgrowth of bone with disappearance of the bone marrow, leading to aplastic anemia; obstruction of nerve passages in the skull leads to blindness and often hearing impairment. In most cases, osteopetrosis results in oral complications such as tooth deformation, hypomineralization, and delayed or absent tooth eruption. The only curative treatment is hematopoietic stem cell transplantation (HSCT). The main treatment of the oral complications during childhood and adolescence consists in protecting the erupted teeth against caries disease through prophylactic treatment aimed at optimal oral hygiene through frequent regular dental visits throughout life. Many patients with osteopetrosis require major oral rehabilitation to treat complications of the disease. Improved results of HSCT increase the likelihood that dental professionals will encounter patients with osteopetrosis. Case presentation: In this case report, we show that individuals with osteopetrosis who have severe oral complications can be treated successfully if they are treated for osteopetrosis at an early age. The boy had his dental care in pedodontics, and regular multidisciplinary meetings were held for future treatment planning. At the age of 15, he was then referred for rehabilitation. The initial evaluations revealed no further growth in the alveolar bone. The rehabilitation was done stepwise, with extraction of malformed and malpositioned teeth. Initially, the patient received a removable partial denture followed by reconstruction of the width of the alveolar process, titanium implants, temporary fixed bridges, and finally screw-retained titanium–ceramic bridges with titanium frames for the upper and lower jaws. Conclusions: The one-year follow-up after loading indicated a stable marginal bone level and optimal oral hygiene as a result of frequent professional oral hygiene care. The patient showed no signs of symptoms from the temporomandibular joint and has adapted to the new jaw relation without any functional or phonetical issues.

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Inborn Errors of Metabolism and Osteopetrosis

Wynn,

Schulz

2024

The EBMT Handbook

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Inborn errors of metabolism (IEM) comprise a large group of inherited disease, some of which are disorders of lysosomal, peroxisomal, or mitochondrial function, and only some can be improved following HCT. The mechanism of action varies between the different metabolic disorders. In the lysosomal disorders, healthy donor cells deliver the enzyme (secretion) to residual enzyme-deficient host cells. This is a changing area of medicine, in which autologous stem cell gene therapy is changing BMT practice, and this is likely to accelerate in the immediate future.Osteopetrosis is a disorder of bone remodelling. The defect usually lies in the osteoclast, which is involved in bone metabolism, and is a specialized tissue macrophage. HCT restores competent tissue osteoclasts and therefore corrects the disease.

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Hematopoietic stem cell transplantation, a curative approach in infantile osteopetrosis

Cited by 7 publications

References 48 publications

Successful complete oral rehabilitation of a patient with osteopetrosis with extensive pre-treatments, bone grafts, dental implants and fixed bridges: a multidisciplinary case report

Successful complete oral rehabilitation of a patient with osteopetrosis with extensive pre-treatments, bone grafts, dental implants and fixed bridges: a multidisciplinary case report

Successful complete oral rehabilitation of a patient with osteopetrosis with extensive pre-treatments, bone grafts, dental implants and fixed bridges: a multidisciplinary case report

Inborn Errors of Metabolism and Osteopetrosis

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