Objectve To investigate the association between insertion/deletion (I/D) polymorphism of angiotensin converting enzyme (ACE) gene and autosomal dominant polycystic kidney disease (ADPKD). Methods Polymorphism of ACE gene was analyzed by polymease chain reavtion (PCR) in 103 ADPKD patients and 16 ADPKD family constellations including 35 patients and 30 non-ill people. Clinical data were collected and age of onset, hepatocyst, hypertension, urinary tract infecton, urinary concretion, hematuria were used as the main parameters to analyze the association between ACE gene polymorphism and ADPKD. Results The age of onset in DD genotype was 7.2 years younger than that in DI genotype [(31.90±11.41) vs (39.10±10.08) years, P<0.05] and was 14.25 years younger than that in Ⅱ gene type [(31.90±11.41) vs(46.15±14.74) years, P<0.05]. The age of onset in I/D genotype was 7.05 years younger than that in Ⅱ genotype [(39.10±10.08) vs (46.15±14.74) years, P<0.05]. There were significance differences of main clinical symptoms (hypertension, hematuria and urinary tract infection) among three genotype groups. In 11 family constellations, ACE gene polymorphism presented genetic linkage, but without significant difference (P>0.05); the genotype distribution was not significantly different between ADPKD and non-ill people (P>0.05), as well as between man and woman (P>0.05); the DD genotype frequency was significantly higher in ADPKD patients with chronic renal failure (P<0.05). Conclusions The age of onset in DD gentype is the youngest among three groups. The incidence of hypertension and hematuria in DI genotype is the highest. The ACE gene polymorphism in ADPKD family constellation does not provide diagnosis information. The ACE gene I/D polymorphism may not contribute to ADPKD. The DD genotype of ACE may be a risk factor of renal failure in the ADPKD.

Objective To investigate and analyze the mineral and bone disorder (MBD) in the patients with chronic kidney disease (CKD),reveal the change of related indexes of CKD-MBD.Methods A cross-sectional study was carried out in the First Affiliated Hospital of Harbin Medical University.From October 2011 to May 2014,1318 inpatients and hemodialysis outpatients were enrolled.Parameters related to MBD,including serum phosphorus (P),total calcium (t-Ca),intact parathyroid hormone (iPTH) and alkaline phosphatase (AKP) were analyzed.Last,it was analyzed with multiple regression analysis to related factors of the secondary hyperparathyroidism (SHPT) in patients with CKD.Results Serum calcium,phosphorus and iPTH had no obvious abnormalities at the early stages of CKD [GFR ＞ 60 ml· min-1· (1.73 m2)-1],and relatively stable before GFR ＞ 30 ml· min-1· (1.73m2)-1.After entering the CKD4 stage,serum phosphorus,iPTH increased sharply and serum calcium decreased obviously along with the decreased glomerular filtration rate (GFR).Serum P,t-Ca and iPTH levels were statistically significant in CKD 1 to 5D patients,respectively,serum P:(1.13±0.20) mmol/L,(1.14±0.22) mmol/L,(1.26±0.23) mmol/L,(1.48±0.34) mmol/L,(2.05±0.61) mmol/L and (2.08±0.58)mmol/L;serum t-Ca (mmol/L) (2.35±0.13) mmol/L,(2.35±0.12) mmol/L,(2.35±0.15) mmol/L,(2.26± 0.18) mmol/L,(2.07±0.29) mmol/L and (2.31±0.26) mmol/L;iPTH:57.8(45.6,91.8) ng/L,54.1(37.8,74.6) ng/L,71.6(45.8,102.2) ng/L,131.1(81.7,205.1) ng/L,277.5(173.6,395.3) ng/L and 354.9 (194.4,720.3) ng/L;The stepwise logistic regression analysis showed:hypocalcemia (OR=3.32,P ＜ 0.01) and decreased GFR (OR=5.28,P ＜ 0.01) were independent risk factors of iPTH elevation at stage CKD3～ 5.Conclusions From the beginning of the CKD3 stage,serum t-Ca,P,iPTH level began to be relatively abnormal as renal function declined.Hyperphosphatemia,SHPT has not been improved significantly in CKD5D stage patients even with hemodialysis.The regulation of hemodialysis on serum calcium showed overcorrecting phenomenon.