Shinichiro Kawai

THE ATTITUDE OF JAPANESE PHYSICIANS REGARDING GENETIC SERVICE FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD)

SummaryA questionnaire carried out among Japanese physicians revealed that a strong demand for genetic counseling among patients and families with autosomal dominant polycystic kidney disease (ADPKD). In contrast, the awareness of physicians regarding genetic counseling for the disease seemed to be low. For example, 66.0% of the respondents to the questionnaire revealed a negative attitude to providing genetic counseling for patients, and 30.7% of the respondents did not know that most types of polycystic kidney disease are inherited disorders. With the advance of scientific research, the demand for genetic counseling among patients is bound to increase. Therefore, the providers of genetic counseling including the physicians are now pressed to improve their services.

Renal distribution of collagen type IV α chains in autosomal-dominant Alport syndrome

BackgroundAutosomal-dominant Alport syndrome is a recognized, but relatively uncommon, form of Alport syndrome. Recently, mutations in theCOL4A3 andCOL4A4 genes, which encode collagen type IV α3 and α4 chains, respectively, have been shown to cause the disease. However, the distribution of α(IV) chains has yet to be determined.MethodsTo clarify the renal distribution of α(IV) chains, immunohistochemistry of α1(IV) to α6(IV) chains was performed, using chain-specific monoclonal antibodies, raised by us, and an antigen retrieval procedure. Paraffin-embedded renal sections, obtained from 8 patients from 3 families with the disease, were examined.ResultsThe distribution of all 6 α(IV) chains was not significantly different between the 8 patients and the controls. Collagen type IV α1 and α2 chains were ubiquitously expressed, while α3 to α6 chains were detected in the basement membranes of the glomerulus and Bowmans capsule, and/or part of the tubular basement membranes.ConclusionsOur findings contrast with those of X-linked and autosomal-recessive Alport syndrome. The distribution pattern of α(IV) chains may provide a useful means of distinguishing the different forms of Alport syndrome.

IgA Nephropathy, Consanguinity and Hypertension

Shinsuke Nomura, MD, Lecturer, Nephrology Division, Department of Medicine, Kawasaki Medical School, Kurashiki, Okayama, 701-01 (Japan) Dear Sir, The cause and pathogenesis of the most common glomerular disease, IgA nephropathy, are not clearly understood. It had been assumed that IgA nephropathy develops randomly in individuals. However, a possible genetic influence in its pathogenesis has been recently suggested because of some clinical aspects; e.g., the association of specific HLA antigen with the development of the disease, regional and racial differences in its prevalence, and clustering of the disease in some families [1]. Therefore, it seems likely that the possible genetic influence in its pathogenesis may be responsible for the development of the disease in susceptible individuals. If a gene or genes considered to be associated with genetic susceptibility to IgA nephropathy exist, the phenotype(s) derived from the gene(s) may possibly be in evidence in patients afflicted with IgA nephropathy who are products of consanguineous mat-ings. Therefore, we are interested in the characteristic signs and findings found in these patients in this investigation to attempt to explore the hypothesized gene(s). Of 162 patients with IgA nephropathy who were followed up at our outpatient clinic, we identified 6 patients (3.7%) who were products of consanguineous matings using a questionnaire. Interestingly, it was revealed that 4 of these 6 developed hypertension during the early course of the disease, by a retrospective review of patients’ records. Two of the 4 had malignant hypertension and had lost renal function at age 28 and 41, respectively. Neither proteinuria and/or hematuria of all 6 patients have been eliminated since the diagnosis of the disease. However, these patients could not be distinguished from the other 156 patients by histo-logical or laboratory examinations. The 6 inbred patients may offer some clues to investigate the hypothesized gene(s). First, these findings may indicate that the inbred IgA nephropathy patients are vulnerable to hypertension. It may be possible to speculate that our patients whose parents were consanguineous mates might have been homozygotes of a susceptible gene for hypertension, or that the hypothesized gene(s) associated with genetic susceptibility to IgA nephropathy might have also played a role in the development of hypertension.

Intrathoracic instillation of fibrin and antiplasmin in treating hydrothorax following CAPD. A case report.

私達は右側胸水に対してフィブリンと抗プラスミン製剤を胸腔内に注入し, CAPDの継続が可能となった1症例を経験した.患者は, 29歳男性, 1990年4月CAPDを導入し, 2か月後に乾性咳嗽と呼吸困難が出現した. 胸部X線にて右側胸水貯留を認め入院した. 放射性同位元素 (99mTcスズコロイド) にて腹腔から胸腔への一方通行を確認した. 治療として, 最初に7日間のCAPDの中断を試みたが, CAPDを再開すると再び胸水が出現した. 次に, 完全に胸水を排除した後, フィブリノーゲンを胸膜内に注入した. 21日後CAPDを再開したところ, 胸水が再び出現した. しかし, フィブリノーゲンに抗プラスミン製剤を加えると, 胸水は出現せずCAPDの継続が可能となった. 胸膜癒着に際して, 患者は37℃の微熱と軽度の胸部痛があるのみであった. 一般にCAPDでの胸水合併例では, CAPDの中断で効果がなかった場合, 胸膜癒着術が行われている. 癒着物質には, タルクやテトラサイクリン, cell wall skelton, 自家血等が用いられているが, いずれも確実な効果が得られなく, また激しい疼痛や発熱をきたすこともあった.今回, 私達が試みたフィブリンと抗プラスミン製剤は効果が確実で副作用も少なかった.