No Association of TGF-beta Gene Polymorphism with the Progression of Autosomal Dominant Polycystic Kidney Disease(ADPKD) in Korean Patients / 대한신장학회잡지

BACKGROUND: Two genetic loci, PKD1 and PKD2, have been identified as being responsible for ADPKD, and PKD1 is known to be associated with poor prognosis. However, the presence of intrafamilial clinical diversity suggests the presence of disease-modifying loci. Because the mechanism of renal failure in ADPKD includes cystic growth and tubulointerstitial atrophy and fibrosis, we studied the associations between two cytokine gene polymorphisms in the TGF-beta gene, which are known to be related with chronic tubulointerstitial inflammation, and ADPKD progression in Korean patients. METHODS: 47 normal controls and 114 individuals with ADPKD were genotyped by PCR-RFLP, and the TGF-beta gene leader sequence of T869C(Leu10Pro) variant was compared with MspA1I and G915C (Arg25Pro) with BglI. Statistic significances were determined using the Chi-square test. RESULTS: The distribution of alleles for the TGF-beta Leu10Pro polymorphism in ADPKD was : T 52%, C 48%, which was similar to the Korean(56 : 44, p= 0.670) and Western controls(65 : 35), and in addition, no differences were found between the CRF and the non-CRF groups(p=0.571) or the early hypertension and the normotension groups(p=0.252). The distribution of alleles for the TGF-beta Arg25Pro polymorphism was all GG type, which was different from Western controls(90 : 10, p=0.000). CONCLUSION: Our results suggest that the polymorphism at Arg25Pro of TGF-beta in Korean population has different allele distribution from Western, and the polymorphism at Leu10Pro of TGF-beta has no association with the renal progression of Korean ADPKD patients.

Sclerotherapy of Renal Cysts in Korean ADPKD Patients / 대한신장학회잡지

BACKGROUND: Autosomal dominant polycystic kidney disease(ADPKD) is the most common hereditary renal disease in adults, and its major complaints include pain and abdominal fullness due to cyst expansion. So far, for the control of these symptoms, cyst ablation with ethanol or tetracycline, laparoscopic manipulations and surgical marsupialization have been used. METHODS: We used conventional ethanol(n=9) or n-butyl cyanoacrylate(NBCA) plus lipiodol solution (n=18) or both(n=3) for separate cysts as the sclerosing agent in 24 adult Korean ADPKD patients. And their clinical courses after treatment were evaluated. RESULTS: The male to female ratio was 8 : 16 and the mean age at the treatment was 50 yrs(S.D. 13.1). Causes for aspiration were pain in 14 and abdominal fullness in 7 patients and the range for the cyst diameters aspirated were 5-16 cm. Flank pain or discomfort were decreased subjectively in most cases except two. Mean arterial pressures(S.D.) (mmHg) before and after procedure were as follows 112(11.1)(basal), 96(9.6)(1 month) and 98(9.7)(6 month)(p < 0.05, paired-t test). Blood urea nitrogen levels(mg/dL) were not changed 6 month later[24 (12.1) vs. 22(14.6)]. There was no major complication such as bleeding or infection and no death and associated with procedure. There was no difference of therapeutic effect according to sclerosing agent. CONCLUSION: NBCA was as effective as conventional ethanol for sclerotherapy in ADPKD and cyst ablation therapy showed a BP-lowering effect in short-term period.

Cerebrovascular complications in autosomal dominant polycystic kidney disease(ADPKD) / 대한내과학회지

BACKGROUND: ADPKD is one of the most common hereditary renal disease in adult and is a systemic disorder with a variety of cardiovascular manifestations. To elucidate the clinical characteristics of cerebrovascular complications in Korean ADPKD patients, we reviewed the medical records of ADPKD patients who was registered in ADPKD clinic of Seoul National University Hospital. METHODS: A total of 18 adult patients were included and their sex ratio was 8:10. The median age of ADPKD diagnosis was 45.5 year (range 19-85), and age at cerebrovascular accident(CVA) was 52 years(22-82). The median duration from hypertension to CVA was 8 years(0-30). RESULTS: There were 5 cases of infarction, 4 cases of intracerebral hemorrhage, 4 cases of subarachnoid hemorrhage, and 4 cases of transient ischemic attack. Other clinical parameters of ADPKD were not different from patients who were not complicated with CVA. Intracranial aneurysms were detected in 6 patients and their median age at diagnosis was 47.5 years(33-66). Four cases were manifested as subarachnoid hemorrhage. Five cases were diagnosed through TFCA, and two of them were revealed as multiple aneurysms. Five cases received surgical treatment and five of six cases improved without any neurologic sequeale. MR angiography(MRA) were taken in 16 asymptomatic patients, and multiple aneurysms were newly detected in one of them. CONCLUSION: Cerebrovascular complications in Korean ADPKD patients were not significantly different from western patients. Intracranial aneurysms must be included in differential diagnosis in ADPKD patients who manifest an acute neurologic symptoms, and high-risk group need to be screened selectively with MRA.