PubMed Health⌕ Search

Biomedical subjects

C Grönhagen-Riska

Publications and source records attributed to C Grönhagen-Riska.

At least 19 recordsLinked to original sources
PubMed1999

The impact of a family history of Type II (non-insulin-dependent) diabetes mellitus on the risk of diabetic nephropathy in patients with Type I (insulin-dependent) diabetes mellitus.

AIMS/HYPOTHESIS: There is substantial evidence for a role of genetic factors in the development of diabetic nephropathy. In Pima Indians, a link between susceptibility to diabetic nephropathy and Type II (non-insulin-dependent) diabetes mellitus has been proposed. In this study, our aim was to examine the association between a family history of Type II diabetes and diabetic nephropathy in patients with Type I (insulin-dependent) diabetes mellitus. METHODS: In a cross-sectional case-control study, we assessed the prevalence of Type II diabetes in the parents of 137 Type I diabetic patients with diabetic nephropathy (albuminuria > 300 microg/min in two of three overnight urine collections) compared with the parents of 54 Type I diabetic patients without nephropathy (albuminuria < 20 microg/min). RESULTS: Thirty-four (25 %) of the patients with nephropathy compared with five (9 %) of the patients without nephropathy had a parental history of Type II diabetes (p = 0.019). A parental history of Type II diabetes was associated with a three-fold risk [odds ratio 2.95 (95% confidence interval: 1.03 to 8.40), p = 0.043] of diabetic nephropathy after adjustment for sex, glycaemic control and family history of hypertension. Furthermore, there was an excess of risk factors for development of Type II diabetes (higher fasting plasma glucose concentrations, higher prevalence of hypertension, higher waist-hip ratio and a tendency towards more glucose intolerance) among previously non-diabetic parents of patients with nephropathy. CONCLUSION/INTERPRETATION: Genetic or environmental factors or both related to familial Type II diabetes increase susceptibility to diabetic nephropathy in patients with Type I diabetes.

Adult↗
PubMed1999

Tumour necrosis factor alpha (TNFalpha) in tears of atopic patients after conjunctival allergen challenge.

BACKGROUND: Proinflammatory cytokines, such as TNFalpha are involved in the pathogenesis of allergic rhinitis and asthma. OBJECTIVE: Our aim was to study the tear fluid TNFalpha levels in atopic patients before and after topical ocular allergen challenge. METHODS: Thirteen patients were first challenged with topical allergen in the left eye and then dilution buffer in the right eye. Tear fluid samples were collected before the challenges and after 5, 30 and 60 min. Clinical symptoms were scored. Tear fluid TNFalpha concentrations were measured using a double-antibody radioimmunoassay. TNFalpha release rates were calculated using the tear fluid flow in the collection capillary as an estimate for the tear secretion rate. RESULTS: The mean baseline TNFalpha concentrations (ng/L) were 1310 (allergen-challenged eye) and 967 (control eye), and release rates (pg/min) 1.81 (allergen-challenged eye) and 1.39 (control eye), respectively. In the allergen-challenged eye, TNFalpha concentrations and release rates were 1479 and 4.30 (5 min), 1367 and 3.20 (30 min) and 1426 and 3.80 (60 min). In the control eye, TNFalpha concentrations and release rates were 746 and 0.67 (5 min), 1001 and 0.92 (30 min) and 1504 and 1.05 (60 min). The release rates of the allergen-challenged eye were significantly increased at all time points after the challenge when compared with the baseline or the control eye. CONCLUSION: Increased TNFalpha release rates suggest that this cytokine is an early mediator of allergy after conjunctival challenge.

Adolescent↗
PubMed1999

Soluble Fas and Fas ligand in human tear fluid after photorefractive keratectomy.

BACKGROUND/AIMS: The Fas-Fas ligand system is thought to be involved in stromal cell apoptosis after corneal wounding. The aim was to measure changes in human tear fluid levels of soluble Fas (sFas) and Fas ligand (sFasL) following myopic photorefractive keratectomy (PRK). METHODS: Tear samples of 59 patients were collected preoperatively, and 1 or 2 days after PRK. Tear fluid sFas or sFasL concentrations were determined using sandwich ELISAs. Subsequently, tear flow corrected concentrations (releases) were calculated to compensate for the postoperative tear hypersecretion. RESULTS: The preoperative tear fluid flows (TFF) were 6.4 (1.7) microl/min (mean (SEM)) in sFas group (n = 18), and 7.5 (1.5) microl/min in sFasL group (n = 39). Postoperatively TFFs increased to 37.9 (10.9) microl/min (p = 0.003) and 58.3 (7.0) microl/min (p = 0.000), respectively. The mean preoperative sFas concentration (24.4 (11.6) U/ml) decreased to 9.7 (4.1) U/ml (p = 0.001) postoperatively, and the mean sFasL concentration (299.1 (28.8) ng/l) to 118.7 (15.9) ng/l (p = 0.000). However, the release of both substances increased significantly: sFas from 87.3 (29.4) mU/min to 229.4 (82.9) mU/min (p = 0.002) and sFasL from 1620.6 (226.4) fg/min to 4777.1 (596.1) fg/min (p = 0.000). CONCLUSIONS: Both sFas and sFasL are normal constituents of human tears. Despite a decrease in concentrations related to reflex tears, the release of sFas and sFasL increases significantly after excimer laser photorefractive keratectomy, which suggests that they are involved in corneal healing after PRK in humans.

Adolescent↗
PubMed1998

Does increased urinary interleukin-1 receptor antagonist/interleukin-1beta ratio indicate good prognosis in renal transplant recipients?

BACKGROUND: Interleukin-1 (IL-1) is produced by activated monocytes/macrophages; highly increased amounts of IL-1 have been found in renal tissue in acute rejection of renal grafts. The endogenous inhibitor of IL-1, interleukin-1 receptor antagonist (IL-1ra), is produced in many cells in response to the same stimulus as IL-1. There is some evidence that the balance between IL-1 and IL-1ra is important in the regulation of inflammatory responses. In many inflammatory diseases in both humans and animals, a high concentration of endogenous IL-1ra or administration of exogenous IL-1ra has been shown to relate to shorter recovery time or to reduced mortality. METHODS: We measured the urinary excretion of IL-1ra and IL-1beta during the first 3-6 posttransplant weeks in 23 patients with acute rejection (69 24-hr urine samples) and in 17 patients with stable graft function (51 24-hr urine samples) and expressed the results as cytokine/creatinine ratios. RESULTS: Within the follow-up time, patients with rejection had higher urinary IL-1beta/creatinine (ng/mmol) ratios (median 5.0 vs. 2.7; P<0.005), lower IL-1ra/creatinine (ng/mmol) ratios (median 18.1 vs. 34.2; P<0.1), and consequently lower IL-1ra/IL-1beta ratios (median 3.6 vs. 20.3, P<0.005), compared with patients without rejection. In rejecting patients, IL-1ra/creatinine was constantly low and decreased even further during acute rejection, whereas IL-1beta/creatinine ratios increased from a median prerejection value of 3.5 (range not measurable to 9.0) to a median value of 8.1 (P<0.0005) (range 1.6 to 18.3) during rejection. CONCLUSION: These results suggest that patients who produce high amounts of IL-1ra in relation to IL-1beta are less prone to acute allograft rejection than patients with low IL-1ra/IL-1beta ratios.

Adult↗
PubMed1998

Insulin resistance precedes microalbuminuria in patients with insulin-dependent diabetes mellitus.

BACKGROUND: Insulin resistance has been associated with hypertension and with renal complications in patients with type 1 diabetes mellitus. Causal relationships have not been fully explained. METHODS: We investigated whether insulin resistance precedes microalbuminuria by measuring insulin resistance with a euglycaemic clamp in combination with indirect calorimetry in 16 uncomplicated type 1 diabetic patients and in six healthy control subjects. The patients had over 10 year duration of diabetes, and were expected to experience either a complication-free or complicated disease course within the next few years. They have thereafter been followed for the development of microalbuminuria for 3 years. RESULTS: In a euglycaemic insulin clamp glucose disposal was lower in diabetic patients compared with control subjects (7.5 +/- 2.9 and 12.6 +/- 2.0 mg/kg LBM/min; P<0.002), mainly due to impaired glucose storage (4.3 +/- 2.3 vs 8.6 +/- 1.6 mg/kg LBM/min; P<0.001). Three years later seven IDDM patients had albumin excretion rate over 30 mg/24 h; glucose disposal (5.5 +/- 2.1 vs 9.0 +/- 2.2 mg/kg LBM/min; P<0.01) had been lower in patients who developed microalbuminuria compared with those who remained normoalbuminuric. CONCLUSIONS: Insulin resistance predicts the increment in urinary albumin excretion. Insulin resistance depends mainly on impaired glucose storage in uncomplicated IDDM.

Adolescent↗
PubMed1998

Adhesion molecules and urinary tumor necrosis factor-alpha in idiopathic membranous glomerulonephritis.

Adhesion molecules are required in several physiological processes, but their altered function/expression is associated with the pathogenesis of inflammatory diseases. In the present study on idiopathic membranous glomerulonephritis (MGN) the expression of adhesion molecules (ICAM-1, VCAM-1, PECAM-1, E-selectin, LFA-1, Mac-1) was analyzed in different cellular compartments of the kidney using an indirect immunoperoxidase technique and monoclonal antibodies. Relationships between the expression of these molecules and the clinical and morphological activity of the disease and the urinary excretion of tumor necrosis factor alpha (TNF-alpha) were studied in 20 patients. The results were compared with the findings in ten normal kidneys and urinary TNF-alpha in 17 healthy subjects. The expression of adhesion molecules in glomeruli and tubules was unchanged apart from a diminished expression of VCAM-1 (P = 0.014) in glomerular parietal epithelial cells and PECAM-1 in glomerular endothelial cells (P < 0.01). Interstitial peritubular capillaries expressed significantly (P = 0.009) more E-selectin compared with the controls. The interstitial compartment had a highly increased number of cells expressing ICAM-1 in MGN (32.4 +/- 4.6 cells/high power field) compared with the controls (9.4 +/- 1.2; P < 0.001). Also, cells expressing VCAM-1 (10.2 +/- 1.6 vs. 2.8 +/- 1.9; P = 0.005). PECAM-1 (25.9 +/- 5.3 vs. 7.4 +/- 2.1; P = 0.006), and LFA-1 (20.4 +/- 3.6 vs. 8.3 +/- 1.5; P = 0.041) were increased in the interstitium. Proteinuria correlated particularly with the expression of E-selectin in peritubular capillaries (r = 0.63, P = 0.004). The number of LFA-1 expressing inflammatory cells in the interstitium correlated with peritubular capillary E-selectin (r = 0.8, P < 0.001) and interstitial ICAM-1 (r = 0.61, P = 0.009) expression, but histological alterations did not correlate with the expression of adhesion molecules. Tumor necrosis factor-alpha excretion was significantly increased in MGN (41 +/- 8 pg/mg creatinine) compared with the controls (13 +/- 2; P = 0.001), and in particular, it correlated with the interstitial expression of LFA-1 (r = 0.71, P = 0.002). This study suggests that active MGN leads not only to proteinuria but also to increased urinary TNF-alpha excretion. These may serve as triggers for the up-regulation of adhesion molecules in the peritubular capillaries and interstitial cells thus enhancing the development of the interstitial injury.

Adult↗
PubMed1998

Predisposition to essential hypertension and development of diabetic nephropathy in IDDM patients.

Conflicting results have been reported on the relationship between familial predisposition to hypertension and development of diabetic nephropathy in IDDM. In our case-control study, we assessed the prevalence of hypertension among parents of 73 IDDM patients with diabetic nephropathy (DN+; persistent albuminuria > 200 microg/min or > 300 mg/24 h) and 73 IDDM patients without diabetic nephropathy (DN-; urinary albumin excretion < 20 microg/min or < 30 mg/24 h). Arterial hypertension, defined as antihypertensive therapy or a 24-h ambulatory blood pressure (SpaceLabs 90207) > or = 135/85 mmHg, was present in 57% of parents of DN+ patients compared with 41% of parents of DN- patients (P = 0.034; difference 16% [95% CI 1.3-29.6%]). In addition, the cumulative incidence of hypertension was higher among parents of DN+ patients (log-rank test P < 0.001), with a shift toward younger age at onset of hypertension in this group. However, the difference in prevalence of parental hypertension was not evident using office blood pressure measurements (64 vs. 57%; NS; difference 7% [-5.8-20%). Furthermore, patients with DN+ and with antihypertensive therapy in both parents were themselves more frequently treated for hypertension than were patients with DN+ and without parental treatment for hypertension (100 vs. 61%; P = 0.034; difference 39% [21-57%]). In conclusion, familial predisposition to essential hypertension increases the risk of diabetic nephropathy and may also contribute to the development of systemic hypertension in patients with IDDM and diabetic nephropathy.

Adult↗
PubMed1997

Release of TGF-beta 1 and VEGF in tears following photorefractive keratectomy.

PURPOSE: To study the presence and release of tear fluid transforming growth factor-beta 1 (TGF-beta 1) and vasoendothelial growth factor (VEGF) of 19 patients undergoing excimer laser photorefractive keratectomy. METHODS: Tear fluid samples were collected with scaled microcapillary tubes preoperatively (Day 0) and on the first or second (Day 1-2) and seventh (Day 7) postoperative days. Since postoperative tear fluid flow was significantly higher, we calculated the release of both growth factors by multiplying the concentration by the tear fluid flow in the capillary. RESULTS: The median tear fluid flow in the capillary was 8.1 microliters/ min (range 0.7-20.8) on Day 0, 46.3 microliters/min (3.1-135.1) on Day 1-2, and 10.2 microliters/min (1.8-65) on Day 7. The median TGF-beta 1 concentration and release values were: Day 0: 4.5 ng/ ml (0-23) and 24 pg/min (0-257), Day 1-2: 9 ng/ml (0-32) and 446 pg/min (0-4602; p = 0.0014), and Day 7: 6.5 ng/ml (0-44) and 53 pg/min (0-470), respectively. The median VEGF concentrations and releases were: Day 0: 19 ng/ml (14-23) and 128 pg/min (11-458), Day 1-2: 15 ng/ml (11-20) and 695 pg/ min (14-2567; p = 0.0007), and Day 7: 17.5 ng/ml (15-22) and 167 pg/min (27-1235), respectively. CONCLUSIONS: TGF-beta 1 and VEGF are components of normal tear fluid. The significantly increased release of both growth factors after exeimer laser photorefractive keratectomy may influence the corneal wound healing process.

Adult↗
PubMed1997

Platelet-derived growth factor-BB (PDGF-BB) in tear fluid: a potential modulator of corneal wound healing following photorefractive keratectomy.

PURPOSE: To measure the pre- and postoperative tear fluid platelet-derived growth factor-BB (PDGF-BB) concentrations of patients undergoing excimer laser photorefractive keratectomy (PRK). METHODS: Tear fluid samples from PRK patients were collected with scaled microcapillary tubes preoperatively (Day 0, N = 23), on the second (Day 2, N = 24) and on the seventh (Day 7, N = 14) postoperative days. The PDGF-BB concentration was measured using a sandwich enzyme immunoassay, and the PDGF-BB release was calculated by multiplying the concentration by the tear fluid flow in the collection capillary. RESULTS: The mean tear fluid flow in the capillary was 17.4 microliters/ min (range 1.4-55.0) on Day 0, 62.6 microliters/min (4.3-125.0, p = 0.0000) on Day 2, and 15.5 microliters/min (1.2-50.0, NS) on Day 7. Seventeen percent (4/23) of the Day 0 samples contained detectable concentrations of PDGF-BB (range 95-1330 ng/l). On Day 2 all (24/24) tear samples showed significantly increased concentrations (mean 507 ng/l, range 45-2280 ng, p = 0.0001) and releases (mean 27.6 pg/min, range 1.0-98.0; p = 0.0000). On Day 7 PDGF-B was still measurable in 9/14 samples (mean concentration 194 ng/l, range < 5-925 ng/l, and mean release 1.9 pg/min, range 0.04-6.8 pg/min). CONCLUSIONS: PDGF-BB is an inducible component of tear fluid. In spite of hypersecretion caused by the corneal wound, PDGF-BB concentrations raised significantly during the initial wound healing. Increased PDGF-BB release during the two postoperative days following PRK suggests a role in corneal wound healing.

Adult↗
PubMed1997

Urinary transforming growth factor-beta 1 in membranous glomerulonephritis.

BACKGROUND: Human idiopathic membranous glomerulonephritis (MGN) has a highly variable clinical course and factors determining its outcome are poorly known. Since transforming growth factor-beta 1 (TGF-beta 1) has an essential role in renal fibrogenesis, we studied the possibility to use urinary excretion of TGF-beta 1 in the assessment of progression of the disease in patients with MGN. METHODS: Urinary TGF-beta 1 was determined in 41 patients with MGN, 25 healthy subjects, six non-proteinuric renal transplant patients, 10 patients with IgA glomerulonephritis, and seven proteinuric patients (with non-progressive diseases) using a novel, double antibody enzyme immunoassay. The results were compared with renal morphology and clinical indices of activity of MGN over 12 months. RESULTS: The median urinary TGF-beta 1 excretion (pg/mg creatinine) was significantly higher (1730; range 60-16,970) in MGN patients than in the healthy controls (300; 30-1330; P < 0.0001). In renal allograft recipients the excretion was 840 (250-3440; P < 0.0001 vs healthy controls), in IgA GN it was 1130 (30-4910; P = 0.039), and in proteinuric patients it was 39 (29-165; P = NS). In MGN but not in the proteinuric controls or renal allograft recipients, urinary TGF-beta 1 correlated with urinary albumin excretion (r = 0.86, P < 0.0001) but no correlation with renal function or the duration of the disease was found. Urinary TGF-beta 1 at renal biopsy correlated with interstitial cellular inflammation and its excretion 1 year before the biopsy correlated with indices of sclerosis/fibrosis. Immunosuppressive therapy significantly decreased urinary TGF-beta 1 from 2800 (1610-16,960) to 840 (170-1600) pg/mg creatinine (P = 0.028). Patients with persistent nephrotic syndrome and/or declining renal function had a higher initial TGF-beta 1 excretion (median 3680; 1830-7420 pg/mg creatinine) than those entering partial or complete remission (1060; 60-1960; P = 0.003) within 12 months from sampling.

Adult↗
PubMed1997

Increased release of tumour necrosis factor-alpha in human tear fluid after excimer laser induced corneal wound.

AIMS: To measure the pre- and postoperative tear fluid tumour necrosis factor-alpha (TNF-alpha) concentration and release in patients undergoing excimer laser photorefractive keratectomy (PRK). METHODS: Tear fluid samples from 18 PRK patients were collected with scaled microcapillary tubes preoperatively (day 0), on the second (day 2), and on the seventh (day 7) postoperative days. The TNF-alpha concentration was measured using a double antibody radioimmunoassay, and the TNF-alpha release was calculated by multiplying the concentration by the tear fluid flow in the collection capillary. RESULTS: The mean tear fluid flow in the capillary was 22.5 microliters/min (range 1.5-93.2) on day 0, 80.7 microliters/min (3.0-219, p = 0.0002) on day 2, and 14.6 microliters/min (1.8-41.7, NS) on day 7. The mean TNF-alpha concentration and release values were: day 0, 358 ng/I (110-680) and 9.5 pg/min (0.2-37.5, NS); day 2, 417 ng/l (< 5-750, NS) and 28.6 pg/min (0.6-81.5; p = 0.003); and day 7, 320 ng/I (< 5-735, NS) and 4.8 pg/min (0-25.4, NS), respectively. CONCLUSION: TNF-alpha appears to be a component of normal tear fluid. In spite of hypersecretion caused by the corneal wound, TNF-alpha concentrations remain constant during wound healing. TNF-alpha release increases significantly during the 2 postoperative days following PRK, suggesting a role in corneal wound healing.

Adult↗
PubMed1997

The unchanging incidence of hospitalization for diabetic nephropathy in a population-based cohort of IDDM patients in Finland.

OBJECTIVE: Finland has the highest documented incidence of childhood IDDM in the world, but the incidence of diabetic nephropathy in Finland is unknown. The aim of the present study was to determine the incidence of hospitalization for diabetic nephropathy in a population-based cohort of Finnish IDDM patients and to analyze the prognostic effect of sex, age at diagnosis, and calendar year of diagnosis of IDDM. RESEARCH DESIGN AND METHODS: We included all Finnish patients who had onset of IDDM before age 18 years, were diagnosed between January 1965 and December 1979 (n = 5,149), and were traced for hospitalizations between January 1970 and the end of December 1989 in the Hospital Discharge Register, using the unique personal identification code given to all Finnish citizens. The development of diabetic nephropathy was defined as the first hospitalization with a diagnosis of nephropathy (International Classification of Diseases-8th Revision [ICD-8] 250.04, or 9th Revision [ICD-9] 2503B/2503X). RESULTS: Among the 5,149 patients included, we identified 446 cases of diabetic nephropathy. The incidence of hospitalization for diabetic nephropathy was very low during the first 8 years of diabetes duration, and after that increased to a maximum of 1.6-2.0% per year. Female subjects developed nephropathy slightly earlier than male subjects, but the cumulative risk was independent of sex. Patients diagnosed at ages 5-14 years had the highest risk of hospitalization for diabetic nephropathy. We observed no effect of calendar year of diagnosis. CONCLUSIONS: We found a 20% cumulative incidence of hospitalization for diabetic nephropathy during a total 24 years of IDDM duration. This finding is compatible with the cumulative incidence of hospitalization for diabetic nephropathy found in other European populations. The incidence of hospitalization for diabetic nephropathy did not decrease during the 20-year observation period.

Adolescent↗
PubMed1997

Urinary excretion of TGF-beta 1, PDGF-BB and fibronectin in insulin-dependent diabetes mellitus patients.

We studied the urinary excretion of transforming growth factor-beta 1 (TGF-beta 1), platelet-derived growth factor-BB (PDGF) and fibronectin (FN) in 104 patients (52 normoalbuminuric, 24 microalbuminuric, and 28 with overt diabetic nephropathy) with insulin-dependent diabetes mellitus (IDDM) of a long duration and in 30 non-diabetic controls. IDDM patients had higher urinary excretion of TGF-beta 1, PDGF and FN compared to controls. Urinary excretion of TGF-beta 1 and PDGF was elevated in all IDDM subgroups, while FN excretion was significantly increased only in patients with macroalbuminuria. Urinary excretion of TGF-beta 1 and FN did not differ between normoalbuminuric IDDM patients with long duration of diabetes, a group at low risk of ever developing diabetic nephropathy, and IDDM patients with incipient or overt diabetic nephropathy. Excretion of PDGF was significantly higher in patients with micro- and macroalbuminuria compared to normoalbuminuric patients, but there was a considerable overlap between the groups. In conclusion, although longitudinal follow-up studies are needed to further clarify the issue, our results in long-standing IDDM do not support a hypothesis of urinary excretion of TGF-beta 1, PDGF or FN to predict development of diabetic nephropathy.

Adult↗
PubMed1996

Serological response to Chlamydia pneumoniae in patients with sarcoidosis.

The antigen-specific serological response to Chlamydia pneumoniae was studied in 24 patients with sarcoidosis and compared to that seen in acute C. pneumoniae respiratory infection. By the micro-immunofluorescence test, five sarcoidosis patients had acute antibody, 15 had chronic antibody and four had no antibody against C. pneumoniae. By enzyme immunoassay, 20 sarcoidosis patients had antibody against ReLPS but that cross-reacts with chlamydial LPS. Immunoblot analysis of sera using purified C. pneumoniae elementary bodies showed that recognition of the 40 kDa C. pneumoniae major outer membrane protein was rare (20%). Reactivities with proteins with Mw of 42 K (70%), 60 K (65%), 98 K (55%) and 52 K (50%) were often noted. To study reactivity of chlamydial HSP 60 in sarcoidosis sera, sarkosyl-soluble (contains the 60 kDa HSP) and sarkosyl-insoluble (contains the 60 kDa structural protein) fractions of C. pneumoniae elementary bodies were prepared. The 60 kDa structural protein was recognized with equal frequency by sera from patients with sarcoidosis and acute respiratory infection, while the HSP 60 was more frequently recognized by sera with acute respiratory infection than sarcoidosis. Recombinant fusion proteins expressed from pGEX-2T containing overlapping DNA fragments of the C. pneumoniae 60 kDa HSP gene were purified. Different recognition patterns were identified for sera from sarcoidosis patients and from patients with acute C. pneumoniae respiratory infection.

Adult↗
PubMed1996

Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome.

Conditions for polymerase chain-reaction amplification of ten exon regions (Exons 3, 7, 11 through 13, and 15 through 19) of the collagen COL4A5 gene and four exon regions (Exons 2, and 12 through 14) of the COL4A6 gene were sequenced and established in this study. These Type IV collagen genes contain 51 and 48 exons, respectively. The sequences of these exons were determined in the two genes in 250 male patients with hematuria and suspected Alport syndrome. Seventeen mutations were found in nine of the ten exons studied in the COL4A5 gene in 17 patients, whereas no mutations were identified in COL4A6. One mutation was identical in two patients known to be unrelated. The results indicate that mutations in COL4A5 that leading to renal failure are more frequent than those involved in classic Alport syndrome, and also that mutations in COL4A6 are not likely to cause this disease. Furthermore, mutations in COL4A5 are distributed quite randomly and no "hot spots" were found.

Adolescent↗
PubMed1995

Iron availability is transiently improved by intravenous iron medication in patients on chronic hemodialysis.

Iron deficiency is common in hemodialysis patients, particularly if they are on recombinant human erythropoietin (rHuEPO) therapy. Ten anemic patients (hemoglobin concentration 89 +/- 2.2 g/l, mean +/- SEM) on hemodialysis with either storage (serum-ferritin < 60 mg/l) and/or functional (S-transferrin saturation < or = 17%) iron deficiency were followed for 5 weeks. During the first 3 weeks they were given 100 mg of iron dextran on 10 consecutive dialysis sessions. Half of the patients were concomitantly treated with rHuEPO. Iron therapy resulted in a rapid elevation in serum transferrin iron saturation from 11 +/- 1.5% to 80 +/- 7.2% (p < 0.0001), but it decreased to pre-treatment levels within 2 weeks after discontinuation of iron therapy. Serum ferritin concentration increased from 157 +/- 73 mg/l to 434 +/- 105 mg/l during iron therapy (p < 0.0001). In spite of this only 4 patients (2 rHuEPO treated) responded and had a hemoglobin increment > 10 g/l. In the whole group serum transferrin receptor (TfR) levels remained stable, but increased after the cessation of iron dextran only in the rHuEPO treated patients (p < 0.01). In the responders the TfR levels were higher during iron therapy than in the nonresponders (p < 0.02). In an attempt to explain the resistance to iron therapy, serum concentrations of C-reactive protein (CRP), tumor necrosis factor-alpha (TNF-alpha) and interleukin-1b (IL-1b) were also analyzed.(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗