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1.
Clin Microbiol Infect ; 24(3): 301-305, 2018 Mar.
Article in English | MEDLINE | ID: mdl-28870728

ABSTRACT

OBJECTIVES: To assess the clinical use of panfungal PCR for diagnosis of invasive fungal diseases (IFDs). We focused on the deep tissue samples. METHODS: We first described the design of panfungal PCR, which is in clinical use at Helsinki University Hospital. Next we retrospectively evaluated the results of 307 fungal PCR tests performed from 2013 to 2015. Samples were taken from normally sterile tissues and fluids. The patient population was nonselected. We classified the likelihood of IFD according to the criteria of the European Organization for Research and Treatment of Cancer/Invasive Fungal Infections Cooperative Group and the National Institute of Allergy and Infectious Diseases Mycoses Study Group (EORTC/MSG), comparing the fungal PCR results to the likelihood of IFD along with culture and microscopy results. RESULTS: There were 48 positive (16%) and 259 negative (84%) PCR results. The sensitivity and specificity of PCR for diagnosing IFDs were 60.5% and 91.7%, respectively, while the negative predictive value and positive predictive value were 93.4% and 54.2%, respectively. The concordance between the PCR and the culture results was 86% and 87% between PCR and microscopy, respectively. Of the 48 patients with positive PCR results, 23 had a proven or probable IFD. CONCLUSIONS: Fungal PCR can be useful for diagnosing IFDs in deep tissue samples. It is beneficial to combine fungal PCR with culture and microscopy.


Subject(s)
Invasive Fungal Infections/diagnosis , Molecular Diagnostic Techniques/methods , Polymerase Chain Reaction/methods , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Finland , Hospitals, University , Humans , Infant , Infant, Newborn , Male , Microbiological Techniques/methods , Microscopy/methods , Middle Aged , Predictive Value of Tests , Retrospective Studies , Sensitivity and Specificity , Young Adult
2.
Tissue Antigens ; 81(6): 435-41, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23594347

ABSTRACT

The human leukocyte antigen (HLA) genotype has been shown to associate with tubulointerstitial nephritis (TIN) and tubulointerstitial nephritis with uveitis syndrome (TINU). The association of HLA genes with TIN was examined in this nation-wide study. HLA genotyping was performed in 31 pediatric patients with biopsy-proven TIN. All patients were examined by an ophthalmologist to diagnose possible uveitis. Class II HLA genotypes of TIN patients were compared with the Finnish reference population. We found a significant association between the HLA alleles DQA1*04:01 [risk ratio (RR) 5.0, 95% confidence interval (CI) 2.0-11.2], DQB1*04:02 (RR 2.7, 95% CI 1.4-5.3), and DRB1*08 (RR 3.8, 95% CI 1.5-8.4) and TIN. Uveitis was found in 20/31 (64.5%) patients. HLA genotyping of the TINU patients showed additional risk HLA alleles: DQA1*01:04 (RR 6.1, 95% CI 1.5-17.8), and DRB1*14 (RR 8.2, 95% CI 2.2-22.1). The alleles DQA1*01:04 (RR 8.8, 95% CI 2.2-26.5), DQA1*04:01 (RR 3.2, 95% CI 1.2-7.3), and DRB1*14 (RR 12.0, 95% CI 3.2-33.0) were more frequent in patients with TIN and chronic uveitis than in reference population. The HLA class II haplotype DQA1*04:01/DQB1:04:02/DRB1*08 was the most common combination in our study population (58.1%). None of the patients had haplotype DQA1*04:01/DQB1*06:02/DRB1*15, which is common in Finland. HLA genotype did not predict the renal outcome. We found a strong association between certain HLA genotypes both in TIN and TINU patients. The TIN/TINU-associated HLA alleles appear to vary depending on study population.


Subject(s)
Genetic Predisposition to Disease , HLA Antigens/genetics , Nephritis, Interstitial/diagnosis , Nephritis, Interstitial/genetics , Uveitis/diagnosis , Uveitis/genetics , Adolescent , Child , Child, Preschool , Disease Progression , Female , Finland , Genetic Association Studies , Genotype , Histocompatibility Testing , Humans , Infant , Male , Nephritis, Interstitial/complications , Polymorphism, Genetic , Predictive Value of Tests , Prognosis , Risk , Uveitis/complications
3.
Br J Dermatol ; 167(1): 160-4, 2012 Jul.
Article in English | MEDLINE | ID: mdl-22512509

ABSTRACT

BACKGROUND: A short course of narrowband ultraviolet B (NB-UVB) exposures increases the serum 25-hydroxyvitamin D [25(OH)D] concentration in patients with psoriasis and healthy subjects. OBJECTIVES: To compare the effects of NB-UVB and oral vitamin D substitution in healthy subjects in winter. METHODS: Healthy adult hospital employees and medical students were screened for serum 25(OH)D concentration. Those with 25(OH)D below 75 nmol L(-1) were randomly given either 12 NB-UVB exposures or 20 µg of oral cholecalciferol daily for 4 weeks. The NB-UVB exposures were given with a Waldmann UV 7001 cabin and the mean cumulative dose was 48·4 standard erythema doses. Serum 25(OH)D was measured before and after the treatments by radioimmunoassay. RESULTS: The baseline serum 25(OH)D concentrations were 52·9 ± 10·4 (mean ± SD) in the 33 NB-UVB-treated and 53·5 ± 12·7 nmol L(-1) in the 30 oral cholecalciferol-treated subjects. The mean increase in serum 25(OH)D was 41·0 nmol L(-1) [95% confidence interval (CI) 34·8-47·2; P < 0·001] in the NB-UVB group and 20·2 nmol L(-1) (95% CI 14·6-26·0; P < 0·001) in the cholecalciferol group. The difference between the two treatments was significant at 2 weeks (P = 0·033) and at 4 weeks (P < 0·001). One month after the treatments the 25(OH)D concentrations had increased further. CONCLUSIONS: The present study shows that 12 NB-UVB exposures given during 4 weeks increase serum 25(OH)D concentration significantly more than 20 µg of oral cholecalciferol daily. A short NB-UVB course is an effective way to improve vitamin D balance in winter and the response is still evident 2 months after the course.


Subject(s)
Ultraviolet Therapy/methods , Vitamin D/analogs & derivatives , Vitamin D/administration & dosage , Vitamins/administration & dosage , Administration, Oral , Adolescent , Adult , Aged , Diet , Dose-Response Relationship, Drug , Female , Humans , Male , Middle Aged , Vitamin D/metabolism , Vitamin D Deficiency/blood , Vitamin D Deficiency/radiotherapy , Young Adult
4.
Transplant Proc ; 42(5): 1695-8, 2010 Jun.
Article in English | MEDLINE | ID: mdl-20620503

ABSTRACT

In a previous study, we observed a higher incidence of dyslipidemia in pediatric renal recipients compared with liver recipients. In the present study, we measured common carotid artery intima-media thickness (IMT) in 13 pediatric renal recipients, 9 liver recipients, and 26 control individuals with median age of 11.4, 10.8, and 12.0 years, respectively. The patients were studied from 0.2 to 10.8 years after renal transplantation (RTx) or liver transplantation (LTx). An experienced radiologist (T.K.) blinded to the status of the children measured the IMT using a high-resolution B-mode ultrasonography method. In patients who underwent RTx or LTx, serum fasting lipid profile, estimates of renal and liver function, and glucose metabolism were determined. Children undergoing RTx or LTx more often had hypertension compared with the control individuals (P = .004). Before transplantation, dyslipidemia was greater in patients undergoing RTx compared with those undergoing LTx (P < .05). Children who underwent RTx, compared with those who underwent LTx or control individuals, had thicker mean IMT at the 6 sites measured (mean [SD], 0.57 [0.07], 0.51 [0.05], and 0.53 [0.06] mm, respectively; P = .02]. As a result of linear regression in renal recipients, variability of glomerular filtration rate (<60 mL/min/1.73 m(2) vs normal) accounted for 43.3% of variability of the mean of maximal IMT (B = 8.9; SE = 3.1; P = .01). Variability of pre-RTx serum triglyceride concentration (B = 1.6; SE = 0.6; P = .03) and actual triglyceride concentration (B = 10.3; SE = 2.2; P = .002) accounted for 82.2% of variability of maximal IMT. Our findings support previous data on the importance of maintenance of good graft function with sufficient but not overly efficient immunosuppression after transplantation in prevention of future cardiovascular disease.


Subject(s)
Kidney Transplantation/diagnostic imaging , Liver Transplantation/diagnostic imaging , Tunica Intima/diagnostic imaging , Tunica Media/diagnostic imaging , Adolescent , Cardiovascular Diseases/etiology , Cardiovascular Diseases/pathology , Child , Cholesterol/blood , Drug Therapy, Combination , Follow-Up Studies , Glomerular Filtration Rate , Humans , Immunosuppression Therapy/methods , Immunosuppressive Agents/therapeutic use , Kidney Diseases/classification , Kidney Diseases/surgery , Kidney Transplantation/adverse effects , Kidney Transplantation/immunology , Liver Transplantation/adverse effects , Liver Transplantation/immunology , Postoperative Complications/etiology , Postoperative Complications/prevention & control , Triglycerides/blood , Tunica Intima/pathology , Tunica Media/pathology , Ultrasonography
5.
Br J Dermatol ; 163(2): 321-8, 2010 Aug.
Article in English | MEDLINE | ID: mdl-20331450

ABSTRACT

BACKGROUND: Narrowband ultraviolet B (NB-UVB) is a routine treatment for psoriasis and atopic dermatitis (AD) but its effect on vitamin D balance is not well studied. OBJECTIVES: To examine whether NB-UVB treatment in winter improves vitamin D balance in psoriasis and AD, and to study the effects of NB-UVB on antimicrobial peptide and cytokine expression in the skin. METHODS: Eighteen adult patients with psoriasis, 18 with AD and 15 healthy subjects received a total of 15 NB-UVB exposures on the whole body, given three times a week. Serum calcidiol (25-hydroxyvitamin D) was measured by radioimmunoassay. Antimicrobial peptide and cytokine expression in skin lesions was examined by real-time quantitative polymerase chain reaction. RESULTS: At onset 16 (89%) patients with psoriasis, 17 (94%) patients with AD and eight (53%) healthy subjects had vitamin D insufficiency (calcidiol < 50 nmol L(-1)). NB-UVB treatment significantly increased (P < 0.001) serum calcidiol. The increase was 59.9 nmol L(-1) (95% confidence interval, CI 53.5-66.9) in psoriasis, 68.2 nmol L(-1) (95% CI 55.4-80.1) in AD and 90.7 nmol L(-1) (95% CI 63.8-123.4) in healthy subjects. Psoriasis Area and Severity Index and SCORAD improved significantly (P < 0.001) but no correlation to the increase of serum calcidiol was found. Cathelicidin and human beta-defensin 2 (HBD2) expression was high in skin lesions of psoriasis. After six NB-UVB treatments cathelicidin increased further while HBD2 expression decreased. A similar trend was observed in AD lesions. NB-UVB caused a marked but nonsignificant decrease of interleukin (IL)-1beta and IL-17 in psoriasis lesions. CONCLUSIONS: The present study shows that in addition to a significant improvement of psoriasis and AD, NB-UVB treatment effectively corrects vitamin D insufficiency. It also increases cathelicidin and decreases HBD2 levels in healing skin lesions of psoriasis and AD. This effect might be mediated by improved vitamin D balance and the local cytokine network.


Subject(s)
Antimicrobial Cationic Peptides/metabolism , Calcifediol/blood , Dermatitis, Atopic/radiotherapy , Psoriasis/radiotherapy , Ultraviolet Therapy/methods , Vitamin D/radiation effects , Adult , Cathelicidins/metabolism , Cytokines/metabolism , Dermatitis, Atopic/metabolism , Female , Humans , Male , Middle Aged , Psoriasis/metabolism , Radioimmunoassay , Reverse Transcriptase Polymerase Chain Reaction , Seasons , Vitamin D/metabolism , beta-Defensins/metabolism
6.
Anticancer Res ; 26(6C): 4879-84, 2006.
Article in English | MEDLINE | ID: mdl-17214355

ABSTRACT

Prognostic value of a bone resorption marker, tartrate-resistant acid phosphatase isoform 5b (TRACP 5b), and two matrix metalloproteinases (MMP-2 and MMP-9) was compared with the standard clinical analyses of total alkaline phosphatase (tALP) and prostate-specific antigen (PSA), in prostate cancer (PC) patients with (BM+) or without (BM-) bone metastases. Diagnostic accuracy evaluation showed the highest area under the curve for tALP (AUC=0.98), followed by PSA (AUC=0.87), TRACP 5b (AUC=0.82), MMP-9 (AUC=0.62) and MMP-2 (AUC=0.53). Significantly shorter survival was observed for patients with tALP (p<0.001), TRACP 5b (p=0.002) and PSA (p<0.001) levels, above the determined cut-off values compared with lower marker levels. In multivariate Cox regression analysis, only tALP and PSA, in addition to Gleason score were independent prognostic factors for survival. Of the three novel markers tested, only TRACP 5b proved to be predictive of survival in PC with bone metastases. MMP-2 and -9 are thus not recommended for further studies in this context.


Subject(s)
Biomarkers, Tumor/blood , Bone Neoplasms/blood , Bone Neoplasms/secondary , Prostatic Neoplasms/blood , Prostatic Neoplasms/pathology , Acid Phosphatase/blood , Aged , Aged, 80 and over , Alkaline Phosphatase/blood , Bone Neoplasms/enzymology , Cross-Sectional Studies , Humans , Isoenzymes/blood , Male , Matrix Metalloproteinase 2/blood , Matrix Metalloproteinase 9/blood , Middle Aged , Prostate-Specific Antigen/blood , Prostatic Neoplasms/enzymology , ROC Curve , Tartrate-Resistant Acid Phosphatase
7.
Acta Oncol ; 44(7): 742-7, 2005.
Article in English | MEDLINE | ID: mdl-16227166

ABSTRACT

Skeletal metastases are a significant problem in prostate cancer (PC). The patients are also exposed to treatment-related skeletal changes. This cross-sectional study evaluated a marker of bone resorption, TRACP 5b in relation to the standard analyte total alkaline phosphatase (tALP) as a marker of skeletal changes. Serum levels of TRACP 5b, tALP and PSA were measured in 130 prostate cancer patients. Comparison was made between patients with (BM+, n = 25) and without (BM-, n = 105) skeletal metastases, and between those treated with (n = 64) or without (n = 66) androgen deprivation (AD). Sensitivities and specificities were calculated for each marker and diagnostic accuracy was evaluated by ROC curve analysis. ROC curves indicated the superior accuracy of tALP, whereas TRACP 5b and PSA were comparable. With tALP the best combination of sensitivity (96%) and specificity of (91%) was reached at a cut-off point 224 U/L, the corresponding values were for TRACP 5b sensitivity (76%), specificity (89%) with a cut-off point 4.89 U/L, and for PSA sensitivity (65%), specificity (81%) at 23 ng/L for skeletal metastases. Patients treated with AD showed with increasing duration an increase in TRACP 5b values. TRACP 5b was less specific than tALP as a marker of skeletal metastases. TRACP 5b may have a role in the diagnostics of skeletal changes in PC with a focus on treatment-related skeletal changes.


Subject(s)
Acid Phosphatase/blood , Biomarkers, Tumor/blood , Bone Neoplasms/enzymology , Isoenzymes/blood , Prostatic Neoplasms/enzymology , Aged , Aged, 80 and over , Alkaline Phosphatase/blood , Androgen Antagonists/therapeutic use , Bone Neoplasms/drug therapy , Bone Neoplasms/secondary , Bone Resorption , Cross-Sectional Studies , Humans , Male , Middle Aged , Prostate-Specific Antigen/blood , Prostatic Neoplasms/drug therapy , Prostatic Neoplasms/pathology , ROC Curve , Sensitivity and Specificity , Tartrate-Resistant Acid Phosphatase
8.
Clin Nephrol ; 60(2): 80-4, 2003 Aug.
Article in English | MEDLINE | ID: mdl-12940608

ABSTRACT

PATIENTS AND METHODS: All children with Henoch-Schoenlein glomerulonephritis (HSP-GN) and nephrotic-range proteinuria (> 40 mg/h/m2), treated at 5 university hospitals and in 1 central hospital in Finland during in 1990-1997, were analyzed retrospectively. The mean age of these 19 patients (8 girls, 11 boys) at the time of diagnosis was 9.9 years (range 4.6-15.1 years). A renal biopsy had been performed in all cases, giving findings according to the classification used in the International Study of Kidney Diseases in Children (ISKDC) of grade II (4 patients), grade III (10), grade IV (4) and grade V (1). Six patients underwent a second biopsy. RESULTS: The yearly incidence of nephrotic-range HSP-GN in Finland was 2 per 1 million children under 15 years of age. After a mean follow-up of 4.6 years (range 9 months-9.1 years), 3 patients (15.7%) had no signs of nephritis, 11 (57.9%) had proteinuria < 1 g/day or microscopic hematuria, 2 (10.5%) had proteinuria > 1 g/day, and 3 (15.7%) had developed ESRD or uremia. 47% of the patients needed medication for proteinuria at the time of the latest follow-up. The first kidney biopsy did not predict the outcome of HSP-GN, since all the patients with the poorest outcome had only ISKDC II-III findings in their first biopsy. CONCLUSION: According to our series, the morbidity in cases of HSP-GN with nephrotic-range proteinuria is high and a close clinical follow-up is needed. The treatment of HSP-GN patients should be based on the clinical presentation rather than on the biopsy findings.


Subject(s)
Glomerulonephritis/complications , Glomerulonephritis/therapy , IgA Vasculitis/complications , IgA Vasculitis/therapy , Proteinuria/complications , Proteinuria/therapy , Adolescent , Child , Child, Preschool , Female , Humans , Male , Prognosis , Retrospective Studies , Severity of Illness Index , Treatment Outcome
9.
Arch Dis Child Fetal Neonatal Ed ; 85(3): F214-6, 2001 Nov.
Article in English | MEDLINE | ID: mdl-11668167

ABSTRACT

Genetic determinants of bone mineral content in prematurely born children at 3 months and 9-11 years of age were studied. The findings suggest that multiple genes are involved in the regulation of site specific bone mass accumulation during childhood.


Subject(s)
Bone Density/genetics , Infant, Premature/physiology , Absorptiometry, Photon/methods , Alleles , Analysis of Variance , Body Weight , Child , Electrophoresis, Agar Gel/methods , Genotype , Humans , Infant , Infant, Newborn , Insulin-Like Growth Factor I/genetics , Polymerase Chain Reaction/methods , Polymorphism, Restriction Fragment Length , Receptors, Calcitriol/genetics , Receptors, Estrogen/genetics
10.
Pediatr Infect Dis J ; 20(6): 597-601, 2001 Jun.
Article in English | MEDLINE | ID: mdl-11419502

ABSTRACT

BACKGROUND: Major urinary tract abnormalities are detected in 20 to 40% of infants with acute pyelonephritis (APN). Early detection of structural defects is essential for protecting the kidneys from reinfection and subsequent scarring. The purpose of this study was to investigate whether any factors present during the acute phase of infection could predict the presence of existing significant urinary tract abnormalities in infants. METHODS: A prospective study of 180 infants, aged 1 to 24 months, with APN was conducted. Blood and urine samples were collected. Renal ultrasound (US) was performed within 0 to 6 days from admission. Final diagnosis of the urinary tract anatomy was elucidated using the results of two or more radiologic imaging studies. RESULTS: Risk factors for the presence of significant urinary tract abnormalities in infants were pathogens other than Escherichia coli in urine [relative risk (RR) 3.4, 95% confidence interval (CI) 2.2 to 5.3; P = 0.001], positive blood culture (RR 2.3, 95% CI 1.3 to 4.0; P = 0.039), young age (1 to 6 months) (RR 2.2, 95% CI 1.3 to 3.9; P = 0.004), lack of papG adhesin genes of E. coli in urine (RR 2.1, 95% CI 1.2 to 3.9; P = 0.016) and abnormal renal US (RR 2.0, 95% CI 1.2 to 3.4; P = 0.008). CONCLUSIONS: Infants 1 to 6 months of age with APN caused by bacteria other than E. coli or by papG-negative E. coli strain, positive blood culture and abnormal renal US carry an increased risk for significant urinary tract abnormalities and need enforced follow-up.


Subject(s)
Pyelonephritis/complications , Pyelonephritis/microbiology , Urinary Tract/abnormalities , Acute Disease , Female , Follow-Up Studies , Humans , Infant , Infant, Newborn , Male , Multivariate Analysis , Predictive Value of Tests , Prospective Studies , Risk Factors
12.
Arch Dis Child Fetal Neonatal Ed ; 84(1): F28-33, 2001 Jan.
Article in English | MEDLINE | ID: mdl-11124920

ABSTRACT

AIMS: To evaluate early childhood renal growth, structure, and function in children born at less than 33 weeks gestation and to investigate possible independent effects of perinatal indomethacin exposure. METHODS: A total of 66 children born at less than 33 weeks gestation, 31 of them with perinatal indomethacin exposure (study group) and 35 without (control group), were examined at 2-4 years of age. Serum cystatin C and protein; plasma creatinine, sodium, and potassium; urine protein, calcium:creatinine ratios, and alpha(1) microglobulin; and glomerular filtration rate (GFR) were determined. Renal sonography examinations were performed. RESULTS: The mean serum cystatin C concentrations were slightly higher in the control group than in the study group. Mean values of serum protein, and plasma creatinine and sodium did not differ between the groups, neither did median plasma potassium concentrations and urine protein:creatinine and calcium:creatinine ratios. None had tubular proteinuria. Abnormal GFR (<89 ml/min/1.73 m(2)) was found in one case in each group and renal structural abnormalities in five in each group. In logistic regression analysis the duration of umbilical artery catheter (UAC) use and furosemide treatment emerged as the significant independent risk factors for renal structural abnormalities. Furosemide treatment and assisted ventilation remained the risk factors associated with renal abnormalities in general-that is, functional and/or structural abnormal findings. CONCLUSION: Perinatal indomethacin does not seem to affect long term renal growth, structure, or function in children born at less than 33 weeks gestation. Duration of UAC use, furosemide treatment, and assisted ventilation may be correlated with later renal structural and functional abnormalities.


Subject(s)
Cyclooxygenase Inhibitors/therapeutic use , Indomethacin/therapeutic use , Infant, Premature , Kidney/growth & development , Blood Proteins/analysis , Calcium/urine , Case-Control Studies , Child, Preschool , Creatinine/blood , Creatinine/urine , Cystatins/blood , Diuretics/adverse effects , Furosemide/adverse effects , Globulins/urine , Glomerular Filtration Rate , Humans , Infant, Newborn , Kidney/physiology , Potassium/blood , Regression Analysis , Respiration, Artificial/adverse effects , Risk Factors , Sodium/blood
13.
Pediatr Nephrol ; 15(1-2): 105-8, 2000 Nov.
Article in English | MEDLINE | ID: mdl-11095024

ABSTRACT

Cystatin C is a non-glycated, 13-kDa basic protein produced by all nucleated cells. Recent studies have indicated that the plasma concentration of cystatin C is a better marker for glomerular filtration rate (GFR) than plasma creatinine, which is most commonly used for this purpose. We established reference values for plasma cystatin C in pre- or full-term infants and children. For comparison we also measured the creatinine concentration in the same samples. Cystatin C was measured by a commercially available immunoturbidimetric method with a Hitachi 704 analyzer in sera obtained from 58 pre-term infants, 50 full-term infants and 299 older children (132 girls, 167 boys, median age 4.17 years, range 8 days to 16 years). No sex differences were found. The pre-term infants had higher cystatin C concentrations (mean 1.88 mg/l, SD 0.36 mg/l) than the full-term (mean 1.70 mg/l, SD 0.26 mg/l, P=0.0145). The reference interval for pre-term infants calculated non-parametrically was 1.34-2.57 mg/l and for full-term infants 1.36-2.23 mg/l. The cystatin C concentration decreased rapidly after birth, and above 3 years of age did not depend on age. The reference interval for children 3-16 years of age calculated non-parametrically was 0.51-1.31 mg/l. Younger children (<1 year: 0.75-1.87 mg/l; 1-3 years: 0.68-1.60 mg/l) had slightly, but significantly, higher plasma cystatin C levels.


Subject(s)
Aging/blood , Cystatins/blood , Infant, Newborn/blood , Infant, Premature/blood , Adolescent , Child , Child, Preschool , Creatinine/blood , Cystatin C , Female , Glomerular Filtration Rate , Humans , Male , Nephelometry and Turbidimetry , Reference Values , Regression Analysis , Sex Factors , Statistics, Nonparametric
14.
Hum Mutat ; 15(4): 383-4, 2000 Apr.
Article in English | MEDLINE | ID: mdl-10737991

ABSTRACT

We have carried out a mutation screening of the PHEX gene in Finnish patients with hypophosphatemia. A total of 100% (5/5) of the familial HYP patients (X-linked hypophosphatemia) and 93% (14/15) of the sporadic cases were found to carry a mutation in the PHEX gene. We identified 18 mutations, of which 15 were novel. We report also a new polymorphism 46bp upstream of exon 16. Two families were segregating the same nonsense mutation in exon 1 (R20X), but since this mutation has been previously reported in three independent studies, we consider it to be a mutational hotspot rather than a Finnish founder mutation. We did not find PHEX gene mutations in two additional hypophosphatemia families in which the mode of inheritance was other than X-linked dominant. Also, no mutation could be detected in a patient with suspected oncogenic osteomalacia (OHO).


Subject(s)
Hypophosphatemia, Familial/genetics , Mutation/genetics , Proteins/genetics , Child , DNA Mutational Analysis , Female , Finland , Genetic Testing , Homozygote , Humans , Hypophosphatemia, Familial/diagnosis , Hypophosphatemia, Familial/diagnostic imaging , Hypophosphatemia, Familial/drug therapy , Male , Mutation, Missense/genetics , Osteomalacia/genetics , PHEX Phosphate Regulating Neutral Endopeptidase , Polymorphism, Genetic/genetics , Radiography , Treatment Outcome
15.
Pediatr Nephrol ; 13(6): 506-9, 1999 Aug.
Article in English | MEDLINE | ID: mdl-10452279

ABSTRACT

Cystatin C is a non-glycated 13-kilodalton basic protein produced by all nucleated cells. The low molecular mass and the basic nature of cystatin C, in combination with its stable production rate, suggest that the glomerular filtration rate (GFR) is the major determinant of cystatin C concentration in the peripheral circulation. Recently published studies have shown that cystatin C correlates more strongly than creatinine with GFR measured using the 51Cr-EDTA clearance. The aim of this study was to evaluate serum cystatin C as a marker for GFR in children. GFR was determined on medical indications using the 51Cr-EDTA technique in pediatric patients (2-16 years) in our renal unit. Simultaneously their cystatin C and creatinine concentrations were also measured. Of our 52 patients, 19 had a reduced renal function (

Subject(s)
Cystatins/blood , Glomerular Filtration Rate/physiology , Kidney Diseases/blood , Adolescent , Biomarkers , Child , Child, Preschool , Chromium Radioisotopes , Creatinine/blood , Creatinine/pharmacokinetics , Cystatin C , Edetic Acid , Female , Humans , Kidney/physiopathology , Kidney Diseases/diagnosis , Kidney Diseases/physiopathology , Male , ROC Curve
16.
Perit Dial Int ; 17(6): 573-80, 1997.
Article in English | MEDLINE | ID: mdl-9655157

ABSTRACT

OBJECTIVE: We report our experience with maintenance peritoneal dialysis (PD) in small children. DESIGN: This is a retrospective analysis of the patient records of all children under the age of 5 years treated with continuous peritoneal dialysis (CPD) between 1986 and 1994 in Finland. SETTING: Treatment was started and the patients were seen at the outpatient clinic at the Hospital for Children and Adolescents, University of Helsinki, every 3 months. Between these visits, they had controls at their local hospital every 2-4 weeks. PATIENTS: The most common primary renal disease in these 34 patients was congenital nephrotic syndrome of the Finnish type (27 patients). Others were: congenital nephrotic syndrome (3 patients), polycystic kidney disease (1), urethral valve (1), neuroblastoma (1), and renal dysplasia (1). RESULTS: Mean age at onset was 1.6 years and median treatment time 9.3 months. Time spent in hospital decreased from 270 days/year in the 1980s to 150 days/year in the 1990s. Two children died (5.9%). The peritonitis rate on continuous cyclic peritoneal dialysis was 1:11.5 patient-months. Hernias were diagnosed in 29% of the patients. After 3 months half of the patients were on antihypertensive medication. Pulmonary edema was diagnosed once in 12 patients and twice in 2 patients. During the first 6 months on PD the mean height standard deviation score (hSDS) increased from -2.13 to -1.66 (p < 0.0001). The 6-month change in hSDS before initiation and 6 months after the start of CPD increased from -0.12 +/-0.68 to +0.59 +/- 0.64 (p = 0.0008). CONCLUSIONS: Our results indicate that peritoneal dialysis is feasible and safe in small children. Mortality was low and growth was good. The major challenges presented by CPD therapy were maintenance of optimal nutrition, avoidance of peritonitis, and control of volemia.


Subject(s)
Kidney Diseases/therapy , Nephrotic Syndrome/therapy , Peritoneal Dialysis, Continuous Ambulatory , Age of Onset , Bacterial Infections/etiology , Catheterization/adverse effects , Child, Preschool , Clinical Laboratory Techniques , Female , Finland/epidemiology , Humans , Incidence , Infant , Kidney Diseases/epidemiology , Male , Nephrectomy , Nephrotic Syndrome/congenital , Peritonitis/etiology , Retrospective Studies , Treatment Outcome
17.
Clin Nephrol ; 46(1): 70-1, 1996 Jul.
Article in English | MEDLINE | ID: mdl-8832157

ABSTRACT

Secondary hyperparathyroidism in chronic renal failure (CRF) is due to the increased activity of parathyroid gland. The negative feedback control exerted by the vitamin D metabolite 1,25 (OH)2 D3 is lacking due to the deficiency of this metabolite in CRF. We have studied whether alphacalcidol given orally as thrice weekly evening pulses lowers parathyroid hormone (PTH) levels of children with CRF. Alphacalcidol 0.5-3.0 micrograms was given thrice weekly orally to a total of 22 children (mean age 5.6 years) with CRF; the dosis was adjusted according to PTH, ionized calcium and phosphate concentration. Serum PTH decreased significantly from a pretreatment level of 393 +/- 81 to 122 +/- 34 ng/l after 12 months, and stabilized at this level. Mean vitamin D metabolite concentrations were within normal range. 1,25 dihydroxyvitamin D did not increase during therapy while PTH decreased. The estimated creatinine clearance remained nearly the same (20 +/- 3 and 21 +/- 6 ml/min/ 1.73 m2). Growth remained low normal and bone mineral density did not decrease. Oral alphacalcidol pulse therapy for hyperparathyroidism in uremic children seemed to be easy and effective. The response is even better in inhibiting potential autonomous parathyroid hyperplasia if this treatment was started early. We conclude that feedback regulation of PTH with oral alphacalcidol pulse therapy is efficient in the treatment of hyperparathyroidism in children with CRF prior to dialysis.


Subject(s)
Hydroxycholecalciferols/administration & dosage , Hyperparathyroidism, Secondary/drug therapy , Kidney Failure, Chronic/complications , Parathyroid Hormone/blood , Administration, Oral , Adolescent , Calcium/blood , Child , Child, Preschool , Creatinine/blood , Female , Follow-Up Studies , Humans , Hyperparathyroidism, Secondary/blood , Hyperparathyroidism, Secondary/etiology , Infant , Infant, Newborn , Kidney Failure, Chronic/blood , Kidney Failure, Chronic/therapy , Male , Phosphates/blood , Renal Dialysis
18.
Kidney Int Suppl ; 53: S51-6, 1996 Jan.
Article in English | MEDLINE | ID: mdl-8770991

ABSTRACT

Congenital nephrotic syndrome (CNS) can be caused by neonatal infections, renal diseases which exceptionally occur in early infancy and syndromes with a renal histology of DMS. The most common CNS is the Finnish-type (CNF), an autosomal recessively inherited disease characterized by intrauterine onset of massive proteinuria. The CNF gene has been localized to the long arm of chromosome 19, but the pathogenesis remains unclear. Forty-six CNF patients have been treated at our institution. The diagnosis was based on family history, severe proteinuria of intrauterine onset (serum albumin < 10 g/liter at presentation and urinary protein > 20 g/liter when serum albumin was corrected to > 15 g/liter), a large placenta (> 25% of birth wt), exclusion of other CNS-types and normal glomerular filtration rate during the first six months. Treatment included i.v. albumin substitution, optimal nutrition, thyroxine and anticoagulation. Forty-one patients had been nephrectomized bilaterally at a mean age of 1.2 years and after 3 to 25 months on peritoneal dialysis renal transplantation (Tx) had been performed on 34 who were a mean age of 2.2 years. Growth and development has been normal. Patient survival after Tx was 97%, graft survival 94%, 81% and 81% one, three and five years after Tx was (50% cadaver grafts). Mean GFR was 75 ml/min/1.73 m2 after three years, mean height SDS -1.42, and the nine oldest patients attend school in a normal class.


Subject(s)
Nephrotic Syndrome/congenital , Humans , Nephrotic Syndrome/pathology , Nephrotic Syndrome/therapy
19.
Pediatr Nephrol ; 9(6): 737-41, 1995 Dec.
Article in English | MEDLINE | ID: mdl-8747116

ABSTRACT

Alphacalcidol oral pulse therapy was given for secondary hyperparathyroidism to 22 children (mean age of 5.6 years) with renal insufficiency. At the beginning of the study, the glomerular filtration rate was < 50% of normal, serum intact parathyroid hormone (PTH) was > 100 ng/l and the serum phosphate and calcium concentrations were within the normal range. Alphacalcidol (0.5-3.0 micrograms) was given orally thrice weekly in the evening and adjusted according to PTH, ionized calcium and phosphate concentrations. Serum PTH (mean +/- SEM) decreased significantly from a pre-treatment level of 393 +/- 81 ng/l to 122 +/- 34 ng/l after 12 months, and stabilized at this level. Mean vitamin D metabolite concentrations were within the normal range. 1,25-Dihydroxyvitamin D did not increase during therapy, while PTH decreased. The estimated creatinine clearance remained almost unchanged (20 +/- 3 and 21 +/- 6 ml/min per 1.73 m2). Growth remained low normal (height standard deviation score -1.8 +/- 0.3 initially and -1.7 +/- 0.4 12 months later) and bone mineral density did not decrease. We concluded that feedback regulation of PTH with oral alphacalcidol pulse therapy is effective in the treatment of hyperparathyroidism in children with renal failure prior to dialysis.


Subject(s)
Hydroxycholecalciferols/therapeutic use , Hyperparathyroidism, Secondary/drug therapy , Kidney Failure, Chronic/complications , Kidney Failure, Chronic/therapy , Adolescent , Bone Density , Calcium/blood , Child , Child, Preschool , Diet, Protein-Restricted , Female , Humans , Hydroxycholecalciferols/administration & dosage , Hyperparathyroidism, Secondary/etiology , Infant , Kidney Failure, Chronic/diet therapy , Male , Parathyroid Hormone/blood , Phosphates/blood , Renal Dialysis , Uremia/complications
20.
Pediatr Nephrol ; 9(1): 87-93, 1995 Feb.
Article in English | MEDLINE | ID: mdl-7742232

ABSTRACT

Congenital nephrotic syndrome of the Finnish type (CNF) is a rare autosomal recessively inherited disease characterised by intrauterine onset of massive urinary loss of proteins, 90% of which is albumin. The CNF gene has been localised to the long arm of chromosome 19, but the pathogenesis remains unclear. Historically, all CNF patients died, usually within the first 6 months of life. Today, a normal life can be achieved for a child with CNF by correcting the protein deficiency and normalising nutrition. This is accomplished by early intravenous albumin supplementation, nutritional support, aggressive treatment of complications and early renal transplantation, after bilateral nephrectomy and peritoneal dialysis. In the present article current treatment strategies are reviewed, and our own experience with 43 CNF patients during the last 10 years is presented.


Subject(s)
Nephrotic Syndrome/congenital , Nephrotic Syndrome/therapy , Child, Preschool , Finland , Humans , Infant , Infant, Newborn , Nephrotic Syndrome/genetics , Peritoneal Dialysis, Continuous Ambulatory
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