ESWL is a safe and effective treatment for renal calculi. However, on destruction of the stone, the pressure of shock waves produces renal microdamage. Urinary enzyme testing has been used to diagnosis and monitor various types of renal injured. Three urinary enzymes, N-acetyl-beta- glucosaminidase, beta-galactosidase, gamma-glutamyl transferase in 24 hour urine were monitored in 20 patients before and after ESWL and in 5 controls. The ESWL, a single session treatment, was performed using EDAP LT-01. The amount of the shock wave treated was same regardless of stone size and location. The results were obtained as follows. 1. Post-ESWL N-acetyl-beta-glucosaminidase level was higher than that of control on day 1 and showed a rapid decrease on day 3, and returned to normal by day 28. 2. Post-ESWL beta-galactosidase level was higher than that of control on day 1 and was still higher on day 7, and returned to normal by day 28. 3. Post-ESWL gamma-glutamyl transferase level reached to a peak on day 1 and showed a rapid decrease on day 3, and returned to normal by day 28. In summary, ESWL for renal stones elevates urinary enzymes transiently, which was on peak one day after the treatment and returned to nearly normal level by 1 month after the treatment. Therefore, urinary enzymes seem to be useful in evaluation of the functional recovery of the kidney after ESWL.
beta-Galactosidase ; Diagnosis ; Hexosaminidases ; Humans ; Kidney ; Kidney Calculi ; Shock ; Transferases

PURPOSE: Urinary N-acetyl-beta-D-glucosaminidase (NAG) has been known to reflect the damage of proximal tubular cells in the early stages of renal disease. Recent studies have demonstrated that tubular grade predicted renal outcome better than did other histological parameters in IgA nephropathy. We evaluated the meaning of urinary NAG in relation with initial histological features and renal outcomes in early subclinical IgA nephropathy. METHODS: Among the firstly diagnosed IgA nephropathy patients from Jan 2001 to Dec 2002, 43 subjects were selected with the criteria of normal renal function and 24-h urinary protein excretion <3.5 g/day. The subjects were followed for 2 years. Pathologic lesion was graded according to HASS classification and semiquantitative scorings, from 0 to 3, were carried out for glomerular (GG), interstitial (IG), tubular (TG), and vascular (VG) lesion. RESULTS: The subjects consisted of 20 male and 23 female with mean age of 30+/-13 years, baseline blood pressure 116+/-15/74+/-10 mmHg, Cr 1.03+/-0.24 mg/dL, Ccr 88+/-19 mL/min, 24-h urinary protein excretion (UPER) 1, 790+/-1, 610 mg/24-h, urinary NAG 11.8+/-11.0 U/g cr at the time of biopsy. Hass subclass was correlated significantly with glomerular, tubular, and interstitial grades (all p<0.05). In comparison with clinical parameters, glomerular grade was significantly related with 24-h UPER (p<0.05) and tubular grade was significantly related with systolic blood pressure (p<0.05). Urinary NAG level at the time of biopsy show significant correlation with tubular grade (p<0.05). Progression of renal disease occurred in nine patients (20.9%). The patients with renal disease progression showed significantly low baseline Ccr, high 24-h UPER, and high NAG (all p<0.05). In pathological findings, tubular grade was significantly related with renal prognosis (p<0.05). In regression analysis, tubular grade was a independent predictor of renal prognosis among above four parameters showing significant differences. In survival analysis, tubular grade 0, 1 and grade 2, 3 showed significant difference in renal survival as compared to each other. The patients with baseline NAG urinary NAG above 10 U/g Cr showed significantly worse renal survival as compared with those below 10 U/g Cr (p<0.05). CONCLUSION: Tubular lesion is an independent factor associated with renal progression in these patients. Urinary NAG reflects well the degree of tubular lesion at the time of biopsy. We carefully suggest, therefore, that the measurement of urinary NAG level is helpful to estimate tubular lesion and predict renal prognosis in subclinical asymptomatic IgA nephropathy patients before they undergo renal biopsy.
Acetylglucosaminidase ; Biopsy ; Blood Pressure ; Classification ; Disease Progression ; Female ; Glomerulonephritis, IGA* ; Hexosaminidases* ; Humans ; Immunoglobulin A* ; Male ; Prognosis*

PURPOSE: This study assessed the environmental lead exposure in patients with chronic kidney disease (CKD) and the relationship between lead exposure and renal function indices. METHODS: Seventy-one patients with CKD and 40 control subjects without known renal disease were included. Blood lead was measured by atomic absorption spectrophotometry and tibial lead was measured via 109Cd-based K-shell X-ray fluorescence. Blood urea nitrogen (BUN), serum creatinine, urine creatinine and urine N-acetyl-beta glucosaminidase (NAG) were also measured. Blood lead was corrected with hematocrit (female: 35%, male: 42%) to adjust for differences in anemic status of patients compared with control subjects. RESULTS: The mean level of hematocrit-adjusted blood lead was significantly higher in patients with CKD (4.18+/-1.74 microg/dL) compared with that in control subjects (3.00+/-0.92 microg/dL); the mean tibial lead level tended to be higher in patients with CKD (3.38+/-9.93 microg/g) than that in control subjects (1.28+/-7.92 microg/g), but no statistical significance was observed. In a multivariate regression analysis after adjusting for gender, age, and drinking and smoking status, adjusted blood lead was a significant predictor of increases in BUN and serum creatinine, but not of the level of urine NAG or creatinine. In contrast, no significant association between tibial lead and renal indices was observed in the multivariate regression analysis. CONCLUSION: These results suggest that environmental lead exposure may compromise renal function.
Blood Urea Nitrogen ; Creatinine ; Drinking ; Fluorescence ; Hematocrit ; Hexosaminidases ; Humans ; Renal Insufficiency, Chronic ; Smoke ; Smoking ; Spectrophotometry, Atomic

GM2 gangliosidosis II(Sandhoff disease) is a lysosomal storage disease due to deficiency of beta-hexosaminidase activity, transmitted by mode of autosomal recessive. Clinical features are so variable, ranging from infantile onset resulting death before 4 years, to subacute or chronic forms with more slowly progressive neurologic condition. We experienced a case of GM2 gangliosidosis II in a 14 months old male who had developmental deterioration and seizures, so we report and review the related literatures.
beta-N-Acetylhexosaminidases ; Gangliosidoses, GM2* ; Hexosaminidases ; Humans ; Infant ; Lysosomal Storage Diseases ; Male ; Seizures

Tay-Sachs Disease (TSD), the most common form of GM(2) gangliosidosis, is an autosomal recessive inborn lysosomal glycosphingolipid storage disease which is resulted from the mutations that affect the alpha-subunit locus on chromosome 15 and cause a severe deficiency of hexosaminidase A. It is characterized by normal motor development in the first few months of life, followed by progressive weakness and loss of motor skills beginning around 6 months of life. Neurodegeneration is relentless and manifested as relentless motor and mental deterioration, beginning with motor incoordination, mental obtundation leading to muscular flaccidity, blindness, and increasing dementia, with death occurring by the age of 4 or 5 years. We report a successful anesthetic management in a patient with Tay-Sachs Diseases for tracheostomy and feeding gastrostomy.
Ataxia ; Blindness ; Chromosomes, Human, Pair 15 ; Dementia ; Gangliosidoses ; Gastrostomy ; Hexosaminidase A ; Hexosaminidases ; Humans ; Motor Skills ; Muscle Hypotonia ; Tay-Sachs Disease* ; Tracheostomy

PURPOSE: Urinary excretion of N acetyl-beta-D glucosaminidase (NAG) and beta2-microglobulin (beta2-M) was increased in the presence of proximal tubular damage. Based on these urinary materials, we investigated the ability of expecting renal function in chronic glomerular diseases. In this study, we evaluated the relationship between glomerular filtration rate (GFR) urinary NAG, and urinary beta2-M. METHODS: We evaluated 52 children with chronic kidney disease at the Chung-Ang University Hospital between January 2003 and August 2009. We investigated the 24-hour urinalysis and hematologic values in all 52 patients. Serum creatinine, creatinine clearance (Ccr), serum cystatin C, urinary beta2-M and urinary NAG were measured. RESULTS: Out of 52 patients, there were 13 children with minimal change in disease, 3 children with focal segmental glomerulosclerosis, 17 children with immunoglobulin A nephropathy, 15 children with Henoch-Schonlein purpua nephritis, 3 children with poststreptococcal glomerulonephritis, and 1 child with thin glomerular basement membrane disease. In these patients, there were significant correlation between the Ccr and urinary NAG (r=-0.817; P<0.01), and between the GFR (as determined by Schwartz method) and urinary NAG (r=-0.821; P<0.01). In addition, there was a significant correlation between the GFR (as determined by Bokencamp method) and urinary NAG (r=-0.858; P<0.01). CONCLUSION: In our study, there was a significant correlation between the GFR and urinary NAG, but there was no correlation between the GFR and urinary beta2-M, suggesting that the GFR can be predicted by urinary NAG in patients with chronic glomerular disease.
Child ; Creatinine ; Cystatin C ; Glomerular Basement Membrane ; Glomerular Filtration Rate ; Glomerulonephritis ; Glomerulonephritis, IGA ; Glomerulosclerosis, Focal Segmental ; Hexosaminidases ; Humans ; Nephritis ; Proteinuria ; Renal Insufficiency, Chronic ; Urinalysis

BACKGROUND: Chitotriosidase is an accepted marker of macrophage activation. In this study, we investigated serum chitotriosidase levels in pulmonary tuberculosis (PTB). METHODS: Forth-two patients with PTB and 30 healthy subjects were enrolled in the study. The radiological extent of PTB, radiological sequela after treatment, and the degree of smear positivity were assessed. Chitotriosidase levels were measured by a fluorometric method. RESULTS: The serum chitotriosidase levels of the PTB patients were significantly higher than those of the control subjects (39.73+/-24.97 vs. 9.63+/-4.55 nmol/mL/h, P<0.001). After completion of the standard 6-month antituberculous treatment, chitotriosidase levels in PTB patients significantly decreased (10.47+/-4.54 nmol/mL/h, P<0.001). Chitotriosidase levels correlated significantly with the radiological extent of PTB, degree of smear positivity, and post-treatment radiological sequela score (r=0.439, r=0.449, and r=0.337, respectively). CONCLUSIONS: This study demonstrated that serum chitotriosidase levels increase in PTB; therefore, chitotriosidase can be used as a marker of disease activity, severity, and response to treatment.
Adult ; Antitubercular Agents/therapeutic use ; Biological Markers/blood ; Fluorometry ; Hexosaminidases/*blood ; Humans ; Male ; ROC Curve ; Severity of Illness Index ; Tuberculosis, Pulmonary/drug therapy/*enzymology/radiography ; Young Adult

Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterised by periodic inflammatory attacks. We investigated changes in monocyte-granulocyte derived S10012A and chitotriosidase in both the attack and silent period of FMF for better estimation of inflammation. Endogenous resolvin was determined for utility to restrict inflammation. This study included 29 FMF patients (15 M/14 F) and 30 healthy controls (15 M/15 F). Serum levels of highly sensitive C-reactive protein, serum amiloid A (SAA), S100A12, chitotriosidase, and resolvin D1 were measured. Age, sex, body mass indexes, and lipids were similar between patients and controls. Biomarkers including hs-CRP, SAA, S100A12, chitotriosidase, and resolvin D1 were higher in the attack period of FMF patients compared to controls (P < 0.001). When FMF patients in the silent period were compared with their attack period, hs-CRP, SAA, and chitotriosidase were found elevated in the attack period (P < 0.001, P < 0.001, and P = 0.02 respectively). Serum levels of SAA, S100A12, chitotriosidase, and resolvin D1 in the silent period of FMF patients were still found elevated compared to healthy controls, indicating subclinical inflammation (P < 0.001, P < 0.001, P = 0.009, and P < 0.001 respectively ). In subgroup analysis, patients with M694V homozygote and heterozygote mutations had higher S10012A and hs-CRP compared to other mutation carriers. Our findings indicate that chitotriosidase and S10012A are useful in diagnosis and detection of subclinical inflammation and/or assessment of disease activity in FMF patients. They could be more informative for inflammation in various disease states compared to hsCRP and SAA. Resolvin D1 is elevated in both the attack and silent periods of FMF. It may be helpful to restrict inflammation.
Adult ; Biomarkers ; Docosahexaenoic Acids/*blood ; Familial Mediterranean Fever/*blood/*diagnosis ; Feasibility Studies ; Female ; Hexosaminidases/*blood ; Humans ; Male ; Reproducibility of Results ; S100A12 Protein/*blood ; Sensitivity and Specificity

Siglecs are sialic acid binding Ig-like lectins, subset of the immunoglobulin superfamily. They are characterized by a homologous N-terminal V-set Ig-like domain and C2 set Ig-like domains. N-terminal domains have sialic acid binding activity. In humans, 11 Siglecs have been described sialoadhesin(Siglec-1), CD22(Siglec-2), CD33(Siglec-3), MAG(Siglec-4), more recently described CD33-related Siglecs(Siglec 5-11). Siglecs express most signal via immunoreceptor tyrosine-based inhibition motif(ITIM) cytoplasmic domains. The cytoplasmic tails of all Siglecs except sialoadhesin have one or more tyrosine residues within potential signaling motifs. Inhibitory function of other Siglecs such as Siglec-7 or Siglec-9 was shown in RBL-2H3 cells. Co-crosslinking of Siglec-7 or Siglec-9 and Fc epsilon R1 substantially reduced the serotonin release of RBL-7 and RBL-9 cells. Siglec-8 is expressed on human eosinophils, mast cells and basophils. Siglec-8 has two tyrosine motifs, a proximal motif and a distal motif. They have some inhibitory functions in immune system. We have observed that Siglec-8 is able to inhibit the IgE receptor-mediated beta-hexosaminidase release of RBL-2H3 cells following co-crosslinking. Co-crosslinking of Siglec-8 and Fc epsilon R1 reduced the hexosaminidase release of RBL-2H3 cells. These results show that Siglec-8 is as potent as Siglec-7 and Siglec-9 in delivering inhibitory signals to RBL-2H3 cells. Siglec-8 should be a new member of the inhibitory receptor superfamily and the membrane-proximal ITIM is essential for the inhibitory function of Siglec-8 molecules. Although these molecules present specific marker for the allergic cell types, more work is needed to understand the signaling mechanism and the role in various disease processes.
Basophils ; beta-N-Acetylhexosaminidases ; Cytoplasm ; Eosinophils ; Hexosaminidases ; Humans ; Immune System ; Immunoglobulin E ; Immunoglobulins ; Inflammation* ; Lectins ; Mast Cells ; N-Acetylneuraminic Acid ; Serotonin ; Sialic Acid Binding Ig-like Lectin 1 ; Sialic Acid Binding Immunoglobulin-like Lectins* ; Tyrosine

Tay-Sachs disease is an autosomal recessive, neurodegenerative disorder that results from excessive storage of the cell membrane glycolipid, and GM2 ganglioside within the lysosomes of cells. This disease is caused by deficiency of the isoenzyme beta-hexosaminidase A, produced in the endoplasmic reticulum. Patients with Tay-Sachs disease are characterized by normal motor development in the first few months of life, followed by progressive weakness and loss of motor skills beginning around 2 to 6 months of life. Neurodegeneration is relentless, with death occurring by the age of 4 or 5 years. Tay-Sachs disease could be diagnosed by hexosaminidase enzyme assay and DNA analysis of HEXA gene. However, specific treatment has not been developed. We report here on a case of Tay- Sachs disease in 18-month-old male who presented with delayed development and seizure. This patient showed hyperacusis and cherry red spot in macula on examination of the fundus. The hexosaminidase A activity was zero percent in the enzymatic assay and DNA analysis identified a mutation that glutamine is substituted by stop codon at position 390(Q390X). This patient is the first case of Tay-Sachs disease in Korea diagnosed by enzymatic assay and DNA analysis.
beta-N-Acetylhexosaminidases ; Cell Membrane ; Codon, Terminator ; DNA* ; Endoplasmic Reticulum ; Enzyme Assays* ; G(M2) Ganglioside ; Glutamine ; Hexosaminidase A ; Hexosaminidases ; Humans ; Hyperacusis ; Infant ; Korea* ; Lysosomes ; Male ; Motor Skills ; Neurodegenerative Diseases ; Prunus ; Seizures ; Tay-Sachs Disease*