Die Marmorknochenkrankheit des Erwachsenen (M. Albers-Schönberg, Osteopetrose)

Czitober, H; Möser, Kurt; Gründig, E

doi:10.1007/bf01747966

Cited by 8 publications

(1 citation statement)

References 34 publications

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“…There, as in most recorded cases, the serum alkaline phosphatase had been of a normal level, as in 96% of undoubted myelomatosis. This was quite unusual for other types of diffuse bone sclerosis except for Albers-Schonberg congenital osteopetrosis where abnormal acid phosphatases were found (Czitober et al 1967). It might be worth studying this patient to see if a similar metabolic abnormality was occurring, for abnormal acid phosphatases had been found in myelomatosis (Goldberg et al 1966).…”

mentioning

confidence: 88%

A Difficult Bleeder

Harris

1971

Proceedings of the Royal Society of Medicine

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mentioning

confidence: 88%

A Difficult Bleeder

Harris

1971

Proceedings of the Royal Society of Medicine

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Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders

Whyte

Kempa

McAlister

et al. 2010

Journal of Bone and Mineral Research

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Osteopetrosis (OPT) refers to the consequences of generalized failure of skeletal resorption during growth. Most cases are explained by loss-of-function mutation within the genes that encode either chloride channel 7 (CLCN7) or a vacuolar proton pump subunit (TCIRG1), each compromising acid secretion by osteoclasts. Patients suffer fractures and sometimes cranial nerve entrapment and insufficient medullary space for hematopoiesis. In 1996, we reported that a high serum level of the brain isoenzyme of creatine kinase (BB-CK), the CK of osteoclasts, characterizes OPT dueamong the sclerosing bone disorders (J Clin Endocrinol Metab. 1996;11:1438). Now, we show that elevation in serum of multiple lactate dehydrogenase (LDH) isoenzymes with aspartate transaminase (AST) distinguishes autosomal dominant OPT due to loss-of-function mutation in CLCN7 [Albers-Schö nberg disease (A-SD)] among these conditions. Serum total LDH and AST levels as high as 3Â and 2Â, respectively, the upper limits of normal for age-appropriate controls, were persistent and essentially concordant in A-SD. Serum LDH was elevated in 7 of 9 children and in the 2 adults studied with A-SD. LDH isoenzyme quantitation showed excesses of LDH-2, -3, and -4. Neither total LDH nor AST increases were found in other forms of OPT, including bisphosphonateinduced OPT, or in 41 children and 6 adults representing 20 additional sclerosing bone disorders. Serum TRACP-5b and BB-CK also were markedly elevated in A-SD. Hence, high serum levels of several enzymes characterize A-SD. Elevated serum LDH isoenzymes and AST indicate a disturbance (of uncertain clinical significance) within multiple extraosseous tissues when there is CLCN7 deficiency. ß

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Entwicklungsstörungen des Skeletts

Knochenkrankheiten

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Die Marmorknochenkrankheit des Erwachsenen (M. Albers-Schönberg, Osteopetrose)

Cited by 8 publications

References 34 publications

A Difficult Bleeder

A Difficult Bleeder

Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders

Entwicklungsstörungen des Skeletts

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