Abstract
Studies about chondrocalcinosis in the Chiloe Islands (Chile) showed the high frequency of the disease there and how most of it is aggregated in a few highly involved families. Pedigrees and the high degree of consanguinity among parents of index cases pointed to a recessive inheritance. The presence of common Caucasian anthropological features of genetic value in the patients and the lack of Indian mixture in three of the involved families, documented back to 1600, suggest a Caucasian origin of the mutation. Biochemical studies of the patients' synovial fluid showed a significant rise in pyrophosphate concentration. Calcium, phosphorus, and alkaline phosphatase concentrations were not different from a control group.
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Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Altman R. D., Muniz O. E., Pita J. C., Howell D. S. Articular chondrocalcinosis. Microanalysis of pyrophosphate (PPi) in synovial fluid and plasma. Arthritis Rheum. 1973 Mar-Apr;16(2):171–178. doi: 10.1002/art.1780160206. [DOI] [PubMed] [Google Scholar]
- BACHRA B. N., DAUER A., SOBEL A. E. The complexometric titration of micro and ultramicro quantities of calcium in blood serum, urine, and inorganic salt solutions. Clin Chem. 1958 Apr;4(2):107–119. [PubMed] [Google Scholar]
- BOCHER J., MANKIN H. J., BERK R. N., RODNAN G. P. PREVALENCE OF CALCIFIED MENISCAL CARTILAGE IN ELDERLY PERSONS. N Engl J Med. 1965 May 27;272:1093–1097. doi: 10.1056/NEJM196505272722103. [DOI] [PubMed] [Google Scholar]
- Fernández R., Covarrubias E., Castelli G., Benado M., Lamborot L. Microevolucion en poblaciones humanas Chilenas. II. Consanguinidad y migración en los matrimonios del área de Nuñoa, Santiago, 1850-1960. Biologica (Santiago) 1966 Dec;39:32–55. [PubMed] [Google Scholar]
- Geerards J., van der Korst J. K. Inheritance of primary articular chondrocalcinosis. Ann Rheum Dis. 1973 Jan;32(1):87–87. doi: 10.1136/ard.32.1.87-a. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hollander J. L., Reginato A., Torralba T. P. Examination of synovial fluid as a diagnostic aid in arthritis. Med Clin North Am. 1966 Sep;50(5):1281–1293. [PubMed] [Google Scholar]
- Lackington C., Aviño C., Carrasco M. Incidencia relativa de las afecciones reumáticas. Análisis de 1,442 casos. Rev Med Chil. 1972;100(5):564–571. [PubMed] [Google Scholar]
- MacCarty D. J., Jr, Silcox D. C. Gout and pseudogout. Geriatrics. 1973 Jun;28(6):110–120. [PubMed] [Google Scholar]
- McCarty D. J., Solomon S. D., Warnock M. L., Paloyan E. Inorganic pyrophosphate concentrations in the synovial fluid of arthritic patients. J Lab Clin Med. 1971 Aug;78(2):216–229. [PubMed] [Google Scholar]
- Mccarty D. J., Jr, Hogan J. M., Gatter R. A., Grossman M. Studies on pathological calcifications in human cartilage. I. Prevalence and types of crystal deposits in the menisci of two hundred fifteen cadavera. J Bone Joint Surg Am. 1966 Mar;48(2):309–325. [PubMed] [Google Scholar]
- PLOTZ C. M., SINGER J. M. The latex fixation test. I. Application to the serologic diagnosis of rheumatoid arthritis. Am J Med. 1956 Dec;21(6):888–892. [PubMed] [Google Scholar]
- Parlee D. E., Freundlich I. M., McCarty D. J., Jr A comparative study of roentgenographic techniques for detection of calcium pyrophosphate dihydrate deposits (pseudogout) in human cartilage. Am J Roentgenol Radium Ther Nucl Med. 1967 Mar;99(3):688–694. doi: 10.2214/ajr.99.3.688. [DOI] [PubMed] [Google Scholar]
- Reginato A., Valenzuela F., Martinéz V., Passano G., Daza S. Polyarticular and familial chondrocalcinosis. Arthritis Rheum. 1970 May-Jun;13(3):197–213. doi: 10.1002/art.1780130301. [DOI] [PubMed] [Google Scholar]
- Rothhammer F., Lasserre E., Blanco R., Covarrubias E., Dixon M. Microevolution in human Chilean populations. IV. Shovel shape, mesial-palatal version and other dental traits in Pewenche Indians. Z Morphol Anthropol. 1968 Jun;60(2):162–169. [PubMed] [Google Scholar]
- Russell R. G., Bisaz S., Fleisch H., Currey H. L., Rubinstein H. M., Dietz A. A., Boussina I., Micheli A., Fallet G. Inorganic pyrophosphate in plasma, urine, and synovial fluid of patients with pyrophosphate arthropathy (chondrocalcinosis or pseudogout). Lancet. 1970 Oct 31;2(7679):899–902. doi: 10.1016/s0140-6736(70)92070-2. [DOI] [PubMed] [Google Scholar]
- Schumacher H. R., Jr, Kulka J. P. Needle biopsy of the synovial membrane--experience with the Parker-Pearson technic. N Engl J Med. 1972 Feb 24;286(8):416–419. doi: 10.1056/NEJM197202242860807. [DOI] [PubMed] [Google Scholar]
- Silcox D. C., McCarty D. J. Measurement of inorganic pyrophosphate in biological fluids. Elevated levels in some patients with osteoarthritis, pseudogout, acromegaly, and uremia. J Clin Invest. 1973 Aug;52(8):1863–1870. doi: 10.1172/JCI107369. [DOI] [PMC free article] [PubMed] [Google Scholar]
- VALSIK J., ZITNAN D., SIT'AJ S. Chondrocalcinosis articularis. Section II. Genetic study. Ann Rheum Dis. 1963 May;22:153–157. doi: 10.1136/ard.22.3.153. [DOI] [PMC free article] [PubMed] [Google Scholar]