Table 7.

Treatment of Manifestations in Individuals with Infantile Malignant CLCN7-Related Autosomal Recessive Osteopetrosis (ARO)

Manifestation/
Concern		TreatmentConsiderations/Other
Hypocalcemic
convulsions 		Calcium supplementation 1
Bone marrow
failure 		Erythrocyte or platelet transfusions (irradiated products) as neededIn case of leukocytopenia &/or hypogammaglobulinemia, which may develop in a subset of persons, antibiotics & immunoglobulins may be given in a prophylactic or therapeutic manner.
Newly diagnosed persons should be transferred as soon as possible to pediatric center experienced in allogeneic HSCT in this disease.See Prevention of Primary Manifestations.
Neurologic
issues 		The collaboration of pediatricians, pediatric neurologists, ophthalmologists, & psychologists is required to determine best treatment.
Visual
impairment 		Surgical decompression of optic nerve, a difficult procedure, has been performed w/some success to prevent vision loss in those w/ARO in general [Hwang et al 2000].
Hearing loss Hearing aids
Fractures Treatment by orthopedist w/experience w/ARO in collaboration w/treating pediatrician
Dental issues Treatment as needed by dentistOral surgery may be needed for defective tooth eruption, ankylosis, abscesses, & formation of cysts & fistulas.

ARO = autosomal recessive osteopetrosis; HSCT = hematopoietic stem cell transplantation

1.

The management of calcium homeostasis may be difficult and recommendations are conflicting: whereas physiologic doses of calcium and vitamin D have been used to treat children with osteopetrosis who have rickets, restriction of calcium and vitamin D has been used to prevent progression of disease and hypercalcemic crisis following HSCT. Treatment needs to take into account the particular situation of the affected individual.

From: CLCN7-Related Osteopetrosis

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