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PubMed1978

"Osteopetrosis" in the Fairbank Collection.

The "osteopetrosis" section of the Fairbank Collection in the Radiology Museum of the Royal National Orthopaedic Hospital contains radiographs and case notes of twenty-two patients. This material has been reviewed in terms of modern concepts in an attempt to obtain a long-term follow-up and a firm diagnosis in each individual. Nine patients proved to have the classical autosomal dominant form of osteopetrosis, four had the malignant autosomal recessive type, craniometaphyseal dysplasia was present in two kindreds and isolated individuals had pyknodysostosis, atypical craniodiaphyseal dysplasia and craniosclerosis with osteopathia striata. As these conditions differ greatly in their clinical and genetic prognoses, diagnostic categorisation is of practical importance.

Adolescent↗
PubMed1979

Osteopetrosis reconsidered as a curable immune disorder.

Osteopetrosis is a unique model for investigating osteoclast formation from lymphocytes and more precisely from T-lymphocytes. In the pathogenesis of this condition, a thymic impairement must be postulated. The cure of several osteopetrotic animal mutants and an infant suffering from juvenile malignant osteopetrosis by injecting normal marrow are the first examples of the successful management of a bone disorder by cell injection.

Animals↗
PubMed1979

Host defense in infantile osteopetrosis.

Since infants with malignant osteopetrosis often die from infection at an early age, we studied several aspects of host defense in five such infants. No consistent abnormality was found in cellular or humoral immunity. Monocyte cellular chemotaxis and phagocytosis were normal in four tested infants. However, all four of these infants had decreased intracellular bacterial killing by monocytes. Neutrophil function tests in five infants showed that two had defective bacterial phagocytosis and four had reduced cellular chemotaxis, decreased nitroblue tetrazolium reduction, and decreased intracellular bacterial killing. The severity of the decreased bactericidal capacity of granulocytes did not correlate with the number of circulating immature granulocytes. Our data suggest that abnormal function of circulating monocytes and granulocytes may contribute to impaired host resistance to infection. We postulate that this defect may reflect a more generalized inherited abnormality of phagocytic cells and perhaps osteoclasts that plays a role in the pathogenesis of infantile osteopetrosis.

Blood Bactericidal Activity↗
PubMed1978

[Osteopetrosis in mice caused by ectomesenchymal lesions].

Pathogenesis of osteopetrosis in mice homozygotic for microphthalmia (symbol mi) mutant gene has been studied. Heparin concentration in the blood of mi/mi mice was demonstrated to be 10 times as little as the normal. Administration of different doses of heparin (1, 5, 10 per g of body weight) at different intervals (2--20, 10--20 and 20--25 days including) of their postnatal development causes partial or complete normalization in the construction of the central part of diaphysis of tubular bones. The number of heparin-secreting mast cells, derivatives of the neural crest is less than normal. Osteopetrosis in mi/mi mice is an integral part of the complex syndrom produced by the damage of neural crest cells.

Animals↗
PubMed1976

[Simultaneous discovery of osteopetrosis in a mother and fetus on the occasion of radiopelvimetry (author's transl)].

On the occasion of radiopelvimetry, requested for suspected narrowed pelvis, osteopetrosis was discovered simultaneously in the mother and fetus. At birth, the child was perfectly normal and subsequently showed no clinical or laboratory disorder apart from diffuse osseous condensation. The genetic enquiry proved difficult owing to the family situation and up to this day it is not complete and definitively stopped. Although the beginning of the osseous disorders starts in the fetus on an average at the 4th to 5th month of pregnancy, Albers-Schonberg disease is exceptionally diagnosed during the parenatal period. In fact, the incidence of osteopetrosis in the population remains low and on the other hand prenatal radiological examinations are sparingly requested for specific clinical indications. It is the simultaneous discovery of the condition in the mother and the fetus which makes this case a novel one. The discovery of the fetal involvement does not permit prediction concerning progress towards a benign or malignant form.

Adult↗
PubMed1978

Characterization of anemia induced by avian osteopetrosis virus.

Chickens infected intravenously at 8 days after hatching with an avian osteopetrosis virus developed a severe, progressive anemia in the absence of osteopetrosis. The anemia was characterized as a pancytopenia, in which erythrocytes, granulocytes, and thrombocytes decreased concomitantly. Serum bilirubin levels were normal, whereas erythrocytes from infected chickens demonstrated a slightly elevated osmotic fragility. A negative Coombs test indicated that there was no evidence for erythrocyte-bound antibody. Erythrocytes from infected animals had slightly decreased 51Cr-labeled erythrocyte survival time when compared with normal. Examination of marrow histological preparations, together with ferrokinetic studies with 59Fe, indicated that marrow failure occurred during the acute phase of the anemia. Circulating virus was present during the development and acute phases of the anemia, but disappeared during the recovery phase of the disease. Neutralizing antibody appeared after the disappearance of circulating virus. It is concluded that virus infection induced both marrow failure (aplastic crisis) and decreased erythrocyte survival.

Alpharetrovirus↗
PubMed2026

Fractures are highly correlated with bone density and inversely correlated with bone turnover markers in autosomal dominant osteopetrosis.

Autosomal dominant osteopetrosis (ADO) is a rare osteosclerotic disorder usually caused by missense variants in the CLCN7 gene, which results in impaired osteoclastic bone resorption. Penetrance is incomplete, and disease severity varies widely, even among relatives within the same family. Although ADO can cause visual loss, osteonecrosis, osteomyelitis, and bone marrow failure, the most common complication of ADO is fracture. We are conducting a natural history study to characterize disease progression and determinants of disease severity. We hypothesized that baseline BMD and bone turnover markers would correlate with self-reported fracture history. We report cross-sectional analysis of baseline data from the natural history study in 54 individuals (42 adults, 12 children). In adults, Z-scores for both volumetric (r&#xa0;=&#x2009;0.87, p&#xa0;<&#x2009;.001) and areal BMD (aBMD) of the LS, and Z-scores for FN, and TH aBMD (r&#xa0;=&#x2009;0.77 to 0.78; p&#xa0;<&#x2009;.001) were correlated with lifetime fracture number. Tartrate resistant acid phosphatase, a marker of osteoclast number, correlated positively with fracture (r&#xa0;=&#x2009;0.52, p&#xa0;=&#x2009;.004) consistent with an adaptive response of higher numbers of osteoclasts among more severely affected individuals. However, fracture number correlated inversely with the bone resorption markers serum C-telopeptide (r&#xa0;=&#x2009;-0.60, p&#xa0;<&#x2009;.001) and urine N-telopeptide/creatinine ratio (r&#xa0;=&#x2009;-0.35, p&#xa0;=&#x2009;.047), suggesting that ADO subjects who have the most reduced osteoclast activity have a greater tendency to fracture. Correlation coefficients between fractures, BMD, and bone turnover markers were similar when limited to the 37 adults with disease-causing CLCN7 variants. There were no statistically significant differences between subjects with the most common CLCN7 variant (G215R), the most common variant in our cohort, compared to other CLCN7 variants with respect to fracture, bone density measures, or biochemical markers of bone turnover. These data demonstrate that bone density and biochemical bone turnover markers are indicators of ADO severity as defined by fracture number.

Humans↗
PubMed1977

Pathogenesis of osteopetrosis in the microphthalmic mouse: reduced bone resorption.

Bone resorption, stimulated by injection of parathyroid extract, was measured in vivo in microphthalmic mice as the rate of release of 3H from bone after incorporation of 3H-proline. Bone resorption in these mice, which inherit osteopetrosis, was less than 10% of the in normal litermates. Autoradiography confirmed the reduction in removal of radioactive bone matrix and in bone growth in microphthalmic mice. The ability of these mice to raise the serum calcium concentration in response to PTE was also reduced. These results, that bone resorption is reduced in microphthalmic mice, are discussed in relation to the pathogenesis and cure of the disease.

Animals↗
PubMed1977

Neurological complications of infantile osteopetrosis.

Seven cases of infantile osteopetrosis are presented. Five of these were available for detailed clinical examination and 2 for retrospective review, including autopsy slides. Neurological deficits in these patients are reviewed. Involvement of the central nervous system parenchyma was suggested by observations of delayed development, ocular abnormalities, and reflex changes as well as radiographic and autopsy findings. Cerebral atrophy was present in several of our patients as well as some reported in the literature and may account for the ventricular enlargement found in many of these patients. Though hydrocephalus may be present, it is unclear that this is frequent or that it can occur without antecedent intracranial hemorrhage. The large head size is not accounted for by calvarial thickening or by hydrocephalus. Despite our patients' small stature, pituitary function appeared to be normal. Surgical decompression may stabilize cranial nerve function, particularly when the optic nerves are involved.

Atrophy↗
PubMed1975

Osteopetrosis fetalis. Report on a case, with special reference to ultrastructure.

The clinical and pathological findings concerning the skeletal abnormalities in a case of osteopetrosis fetalis have been reported. The principal data can be summarized as follows. The areas of endochondral ossification have a rickety appearance because of excessive number of hypertrophic and degenerate chondrocytes. These cells are highly vacuolated and the vacuoles, which are of mitochondrial origin, contain beaded filaments which are exocytosed and become part of the matrix. The calcification process is delayed, probably in consequence of a reduced number of matrix vesicles. Abnormal collagen fibrils are sometimes present in the cartilage. The osteoclasts have a very low reabsorbing activity and appear structurally abnormal. The combined effect of all these abnormalities leads to excessive development of osteocartilaginous trabeculae in marrow spaces. These trabeculae have a Ca/P ratio of 1.79 and their mineral substance appears qualitatively normal under the electron microscope.

Bone and Bones↗
PubMed1977

Osteopetrosis in children: a report of 26 cases.

We have observed 26 cases of osteopetrosis among 165,594 children hospitalized over a period of 10 years in the National Children's Hospital. The hospital serves Costa Rica, a country of nearly 2,000,000 inhabitants with 60,000 live births per year. All patients had characteristic roentgenographic bony changes. Among the early manifestations of the disease, nasal obstruction and an adenoidal expression were common. The facial appearance of the patient is characteristic. Serious complications of the disease are hematologic and neurologic disorders.

Child↗
PubMedDate not supplied

Three recessive genes for congenital osteopetrosis in Norway rat.

In the rat, the autosomal recessive toothless (t1) mutation exhibits an acute form of osteopetrosis. This gene is not an allele of either ia or op that causes respectively, a transitory and acute form of the disease. Comparative radiographic study of t1/t1 and op/op mutants reveals some differences in respect to the size and shape of long bones. In contrast to op/op mutants, homozygous t1/t1 animals failed to respond to either parabiosis or bone marrow transplants.

Alleles↗
PubMed1978

Fetal haemoglobin in early malignant osteopetrosis.

The characteristics of the fetal haemoglobin (HbF) in two children with osteopetrosis and high levels of HbF have been studied. The structural analysis of the gamma chains demonstrated a fetal Ggamma/Agamma ratio. HbF was distributed inside only 30% of the peripheral red blood cells. In vitro globin chain synthesis studies showed that there was balanced globin chain production, despite the increased level of HbF.

Alanine↗
PubMed1979

Acute response of parathyroid hormone in congenital osteopetrosis.

Indices of calcium and phosphorus metabolism were studied in 3 children with osteopetrosis before and after infusion of bovine parathyroid hormone extract. Basal plasma concentrations of calcium, alkaline phosphatase and 25-hydroxy vitamin D tended to be low. Plasma immunoreactive PTH levels were at the upper normal range in two patients. A marked increase in urinary cyclic AMP in all patients was solely due to an increase in the nephrogenous cAMP. After vitamin D treatment urinary cAMP was essentially unchanged with the same preponderance of nephrogenous cAMP. Following PTH infusion plasma cAMP showed a brisk rise. There was also a prompt rise in urinary cAMP and a distinct decrease in the calcium to sodium clearance ratio indicating increased calcium reabsorption. Phosphaturic effect was only observed when PTH was given in the highest dose level. The findings are consistent with a state of low grade hyperparathyroidism which could not be related to the plasma levels of 25-hydroxy vitamin D or calcium.

Child↗
PubMed1977

Neurological complications of osteopetrosis.

The clinical course of twins with osteopetrosis has provided a catalogue of the neurological complications that may occur with the disorder. Such a list has not previously been compiled: (1) Hydrocephalus - probably due to outflow obstruction in the posterior fossa. (2) Sagittal sinus thrombosis - due to bony encroachment, or to hematological causes. (3) Exophthalmos - due to bony encroachment in the orbit. (4) Foraminal occlusion at the base of the skull, producing compromise of cranial nerves and vessels. (5) Paraparesis - cause unknown, perhaps due to spinal stenosis. (6) Anemia - myelophthisic, although a hemolytic component due to hypersplenism has been identified, as well.

Anemia, Myelophthisic↗
PubMed1977

Association of osteopetrosis and vitamin D-resistant rickets.

The following report concerns a case of malignant osteopetrosis associated with hypocalcemic rickets unresponsive to vitamin D. Parathyroid hormone (PTH) and Calcitonin (CT) secretions were studied in basal conditions and under calcium gluconate infusion, before and after high doses of vitamin D. Basal values (PTH: 690 pg Eq/ml; CT: 560 pg/ml) were found to be much higher than in five control subjects of the same age group, even after vitamin D therapy (PTH: 990 pg Eq/ml; CT:450 pg/ml). Like rickets, PTH and CT secretions do not seem, therefore, to be notably influenced by vitamin D therapy.

Calcitonin↗
PubMed1979

Anemia and osteopetrosis in a dog.

A 1-year-old, male Australian Shepherd Dog with consanguineous parents was discovered to have severe nonregenerative anemia associated with osteopetrosis. Diagnosis of the bone abnormality was established by skeletal radiography and microscopic examination of a rib biopsy specimen. The anemia was attributed to failure to develop normal marrow cavities combined with failure of extramedullary erythropoiesis. Although blood transfusions sustained the dog's life for 15 months, the dog died of a hemolytic transfusion reaction.

Anemia↗