| Abstract |
The aim of this study is the clinical presentation of Medullary Cystic Kidney Disease (MCKD) among the Cypriot families for which the responsible gene has recently been mapped on Chromosome 1 (1q21). Our material consisted of 386 individuals, belonging to seven large families from a region in Pafos (Cyprus) where this disease has been diagnosed in high frequency. An effort was made to study the largest possible number of individuals among these seven large families. The study included a detailed medical history, clinical examination and laboratory tests, as well as ultrasonography and kidney biopsy wherever possible. In particular, DNA linkage analysis was applied in 213 individuals. Eighty-six (86) individuals had complete clinical and laboratory investigations, 81 individuals had almost complete investigations while 46 individuals did not appear for the investigations. The results showed that: 1. The disease is quite frequent in this particular region of Cyprus, where it is the single most common cause (36.9%), leading to end stage renal failure. 2. There is a wide age range of end stage renal failure, with a mean of 57.5 years and an impressive anticipation phenomenon. 3. The disease affects men and women equally. 4. Hypertension was observed in 53.3% of the carriers and it was commoner among men than women (64.4% and 36.6% respectively). At the early stages of the disease with intact renal function, hypertension was observed at a lower percentage (13.3%), while towards end stage renal failure it was commoner at a percentage of 80.8%. 5. There was increased sodium loss (FENa) among carriers than in non-carriers, commoner among men than women and worse towards end stage renal failure. 6. Hyperuricemia was a very common finding among the carriers of the disease (47.8%), the incidence of which rose to 86.4% towards ESRF. Its absence however from a significant number of patients, excludes it from being directly and cause-effectively related to the disease. 7. Urine findings are almost totally absent as expected. 8. Renal cysts are absent in the majority of the patients at the early stages of the disease, while they are commonly present at its end stage. Renal cysts were observed in 39.4% among all examined carriers, while the incidence increased up to 76.5% towards ESRF. The cysts were cortico-medullary (48.1%), medullary (29.6%) or cortical (22.2%). Renal cysts have also been observed in a significant percentage (28.6%) among non-carriers. 9. There are no pathognomonic histopathological findings for the disease, which presents as a chronic tubulo-interstitial nephropathy, with renal tubu-lar atrophy, lymphocytic infiltration and variable degree of interstitial fibro-sis. Tubular basement membrane thickening with lamellation is characteristic but not pathognomonic. In more advance stages there is also involvement of the glomeruli with periglomerular fibrosis and glomerular sclerosis. 10. Renal transplantation remains a safe method of renal function replacement at ESRF. The results are as good as in transplantation from other causes. There are no reports about recurrence of the disease in the graft. In conclusion, we would like to stress that medullary cystic kidney disease is commoner than previously believed and in some areas, like Pafos in Cyprus, is very common. It is a silent disease with yet great diagnostic difficulties. The application of the recent genetic advances of this disease has been in the interest of many researchers world - wide. We believe that the systemic effort of clinical and genetic study of this disease will offer more knowledge for its pathogenesis, will determine more clear clinical or other diagnostic criteria and will eventually lead to more effective means of treatment.
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