Acute Intermittent Porphyria in a Child with a Note on the Glycine Loading Test

PEDIATRICS ◽  
1964 ◽  
Vol 34 (5) ◽  
pp. 696-699
Author(s):  
DONALD BARLTROP
Keyword(s):  
Acute Intermittent Porphyria ◽  
Urinary Output ◽  
Loading Test ◽  
Urine Specimens

A case of acute intermittent porphyria in a 6-year-old boy is described. Screening of urine specimens from his family showed elevated ALA and PBG levels in a 12-year-old brother. Administration of glycine (0.4 gm/kg) to the patient resulted in increased urinary output of ALA and PBG. Coproporphyrin appeared in the urine of the patient and one brother after glycine. Normal results were obtained in another brother and two control children.

scholarly journals Rapid Quantitative Method Using Spin Columns to Measure Porphobilinogen in Urine

2008 ◽  
Vol 54 (2) ◽  
pp. 429-431 ◽  
Author(s):  
Mikhail Roshal ◽  
Jeanne Turgeon ◽  
Petrie M Rainey
Keyword(s):  
Quantitative Method ◽  
Quantitative Methods ◽  
Exchange Resin ◽  
Anion Exchange Resin ◽  
Acute Intermittent Porphyria ◽  
Acute Porphyria ◽  
Spin Column ◽  
Deming Regression ◽  
Hereditary Coproporphyria ◽  
Urine Specimens

Abstract Background: Large increases of urinary porphobilinogen (PBG) indicate acute porphyria, which may be due to acute intermittent porphyria, variegate porphyria, or hereditary coproporphyria. These conditions are relatively rare but share symptoms with more common conditions, such as acute surgical abdomen, and often must be ruled out rapidly. Reported quantitative methods for PBG measurement are time-consuming and inconvenient. We developed a rapid quantitative method that uses resin-packed spin columns to measure PBG in urine. Method: We applied urine to anion exchange resin in a spin column, then performed centrifugal separation and washing. PBG was eluted in 1 mol/L acetic acid and reacted with Ehrlich’s reagent. After 5 min, we measured absorbance at 525, 555, and 585 nm. PBG concentration (mg/L) was calculated as 88 (A555 − ½(A525 + A585)). Results: The reportable PBG concentration range was 0.2–15 mg/L. Between-day (total) imprecision (CV) was 8.4% at 1.2 mg/L and 3.5% at 4.4 mg/L. Comparison with our established method (x) yielded a Deming regression equation: y = 1.04x − 0.01 mg/L (R2 = 0.98; Sy,x = 0.87 mg/L). No interference was noted from urobilinogen or highly colored urine specimens. Conclusions: This method for PBG measurement is more rapid and precise than other methods. This test can serve as a quick screening test and facilitates batch analysis for routine quantitative testing.

Glycine loading test in acute intermittent porphyria patients and their relatives

Metabolism ◽  
1969 ◽  
Vol 18 (10) ◽  
pp. 860-866 ◽  
Author(s):  
D.Lynn Loriaux ◽  
Sylvia Deleña ◽  
Harold Brown
Keyword(s):  
Acute Intermittent Porphyria ◽  
Loading Test

64: Rapid, Species-Specific Detection of Uropathogens from Clinical Urine Specimens Using an Electrochemical Microsensor Array

2005 ◽  
Vol 173 (4S) ◽  
pp. 18-18
Author(s):  
Joseph C. Liao ◽  
Mitra Mastali ◽  
David A. Haake ◽  
Bernard M. Churchill
Keyword(s):  
Specific Detection ◽  
Species Specific ◽  
Urine Specimens

LACK OF AROMATISATION OF CIRCULATING DEHYDROEPIANDROSTERONE AND DEHYDROEPIANDROSTERONE SULPHATE IN AMENORRHOEIC WOMEN STIMULATED WITH HUMAN GONADOTROPHINS

1965 ◽  
Vol 49 (2) ◽  
pp. 248-261 ◽  
Author(s):  
S. Mancuso ◽  
Francesca P. Mancuso ◽  
K.-G. Tillinger ◽  
E. Diczfalusy
Keyword(s):  
Pregnant Women ◽  
Ovarian Stimulation ◽  
Interstitial Cell ◽  
Follicular Phase ◽  
Radioactive Material ◽  
Dehydroepiandrosterone Sulphate ◽  
Experimental Conditions ◽  
Human Menopausal Gonadotrophin ◽  
Urine Specimens ◽  
Stimulating Hormone

ABSTRACT Two amenorrhoeic women were given a course of 10 injections of human menopausal gonadotrophin (HMG) in daily doses corresponding to 260 IU of follicle stimulating hormone (FSH) activity and 165 IU of interstitial cell stimulating hormone (ICSH) activity. In both patients an extensive ovarian stimulation was observed as indicated by the greatly increased urinary excretion of oestrone, 17β-oestradiol and oestriol. When HMG-treatment was followed subsequently by the administration of human chorionic gonadotrophin (HCG) for 5 days in a total dose of 18 000 and 30 000 IU, respectively, functional corpus luteum tissue was formed in both patients as evidenced by a huge rise in urinary pregnane-3α,20α-diol excretion and by the secretory transformation of a previously atrophic endometrium. At the approximate height of the follicular phase tracer doses of 3H-labelled dehydroepiandrosterone sulphate (DHAS) and 14C-labelled dehydroepiandrosterone (DHA) were administered to both patients in the form of a continuous intravenous infusion of 10 hours' duration. Infusion of the same dose was repeated under identical experimental conditions at the approximate height of the luteal phase. In both patients, very little radioactive material was associated with oestrone and 17β-oestradiol and none with oestriol isolated from 96-hours' urine specimens obtained at both phases of ovarian stimulation. It is concluded that — in contradistinction to the situation in pregnant women — circulating DHAS is not a significant precursor of urinary oestrogens in non-pregnant women.

STUDIES ON THE AROMATISATION OF NEUTRAL STEROIDS IN PREGNANT WOMEN

1970 ◽  
Vol 65 (1) ◽  
pp. 69-83 ◽  
Author(s):  
H. Vokal ◽  
D. F. Archer ◽  
N. Wiqvist ◽  
E. Diczfalusy
Keyword(s):  
Pregnant Women ◽  
Placental Perfusion ◽  
Homogeneous Form ◽  
Urine Specimens

ABSTRACT The following steroids, [7α-3H]5-androstene-3β,16α,17β-triol and [4-14C] 5-androstene-3β,16β,17β-triol were biosynthesized and their metabolism was studied in two subjects at midgestation, following placental perfusion in situ. Among the metabolites isolated in a radiochemically homogeneous form, exclusively 3H-labelled 16α,17β-dihydroxy-4-androsten-3-one was isolated from the extracts of placentas and perfusates. Exclusively 14C-labelled 16β,17β-dihydroxy-4-androsten-3-one was isolated from the placentas and perfusates and 16-epioestriol (1,3,5(10)-oestratriene-3,16β,17β-triol) from the placentas, perfusates and urine specimens. The following compounds contained both 3H and 14C-label: oestriol (placentas and urine specimens) and 5β-androstane-3α,16α,17β-triol (urine specimens). The 3H/14C-ratio of oestriol isolated from the urine specimens was much lower than that of urinary 5β-androstane-3α,16α,17β-triol, or that of the oestriol isolated from the placentas. The 3H/14C-ratio of the oestriol isolated from the urine 2–4 days following the perfusion was lower than that of the perfused material. It is concluded that a considerable amount of the 16-epioestriol secreted by the placenta is gradually converted to oestriol by the maternal organism. A limited conversion occurs also in the placenta.

STEROID METABOLISM IN THE PERFUSED HUMAN PLACENTA

1978 ◽  
Vol 87 (1) ◽  
pp. 181-191 ◽  
Author(s):  
Alfred S. Wolf ◽  
Klaus A. Musch ◽  
Werner Speidel ◽  
Jürgen R. Strecker ◽  
Christian Lauritzen
Keyword(s):  
Venous Blood ◽  
Placental Lactogen ◽  
Dehydroepiandrosterone Sulphate ◽  
Metabolic Capacity ◽  
Loading Test ◽  
Lower Range ◽  
Group I ◽  
High Concentrations ◽  
Steroid Precursor

ABSTRACT A new model for the perfusion of human term-placentas has been developed for studies on the placental biogenesis of C-18 and C-19 steroids. For viability criteria, the glucose- and oxygen-consumption, regional perfusion control by dye-infusions or scanning after injection of 99Tc-labelled macroparticles, and the histological qualification were chosen. The recycled perfusate was investigated for the steroids oestrone (Oe1), oestradiol-17β (Oe2), oestriol (Oe3), 4-androstene-3,17-dione (A), testosterone (T), and human placental lactogen (HPL) by radioimmunoassay in controls and perfusions with the foetal steroid precursor dehydroepiandrosterone sulphate (DHA-S). In control perfusions, steroid hormones were found in constant ratios (Oe1:Oe2:Oe3:T:A = 30:1.5:100:0.35:1). Following the administration of 10 mg DHA-S for testing the metabolic capacity of the organ, high concentrations of Oe1 (90–720 ng/ml = 250–3970 % as compared to 100% pre-injection values) were found, shortly preceded by a rapid increase of A (66–1000 ng/ml = 100–16 000 %). A typical surge of T (5.3–147 ng/ml = 265–4640 %) preceded the normally slower increment of Oe2 (22–220 ng/ml = 1570–4330 %). The concentrations of Oe3 and HPL remained nearly unchanged. From different steroid patterns after DHA-S-load, two distinct responses of term-placentas could be differentiated: Group I (n=12) showed high concentrations of Oe1 (3200 ± 940 %), a small increase of T (1020 ± 500%), as well as low and delayed values of Oe2 (1660 ± 450%). In Group II (n = 5), values were high for T (3160 ± 1020%) and Oe2 (3300 ± 1110%), whereas Oe1 was found in a lower range (508 ± 302%). In contrast to in vivo findings in maternal venous blood after DHS-S injection to the mother, oestrone was found in perfusions as the main oestrogen fraction from DHA-S. Thus, the analysis of such metabolic differences might be of help in the interpretation of complex results from the DHA-S-loading test.

STEROIDSTOFFWECHSEL BEI BRUSTKREBS. III.

1959 ◽  
Vol XXXII (I) ◽  
pp. 23-32 ◽  
Author(s):  
Kurt Schubert ◽  
Hans Schröder
Keyword(s):  
Advanced Cancer ◽  
Liver Damage ◽  
Adsorption Chromatography ◽  
Hepatic Insufficiency ◽  
Loading Test ◽  
Patients With Cancer ◽  
Urinary Steroids ◽  
Normal Women

ABSTRACT A testosterone test using two different dosages was carried out simultaneously in 7 women suffering from metastasizing carcinoma of the mamma and in 3 normal women. In each case the urinary steroids were estimated before the beginning of the test and after administration of 50 mg and 100 mg of testosterone respectively; the interval between the single estimations being one week. The use of fractionated hydrolysis enabled a mild fission of the conjugates and the classification of the products into free steroids, glucuronosides, sulfates and unknown conjugates. The 17-ketosteroids and the testosterone were estimated by means of Girard's separation and adsorption chromatography. During the loading test with testosterone different behaviours became evident, which had not been realized before. The behaviour of the 17-ketosteroids rendered possible the differentiation of normal women from patients with cancer of the breast yet without hepatic insufficiency, and furthermore of these latter ones from those with a liver damage in addition to the cancer of the breast. The glucuronosides of the 17-ketosteroids are only depressed, when there exists a pronounced damage of the liver; the loading test making possible an extension of the range of recognizable damages. Furthermore, the behaviour of dehydroepiandrosterone (II/III), of androsterone (IV), and of aetiocholanolone (V) lends itself to this differentiation. In advanced cancer of the breast the values of II/III are invariably low, whilst IV and V often increase temporarily. The relation of IV to V may be altered in a different way. The excretion of not transformed testosterone is less in patients than in normal women and especially low in patients with liver damage.

Urine Output during Cardiopulmonary Bypass Predicts Acute Kidney Injury after Coronary Artery Bypass Grafting

2016 ◽  
Vol 19 (6) ◽  
pp. 289 ◽  
Author(s):  
Mehmet Yilmaz ◽  
Rezan Aksoy ◽  
Vildan Kilic Yilmaz ◽  
Canan Balci ◽  
Cagri Duzyol ◽  
...  
Keyword(s):  
Acute Kidney Injury ◽  
Cardiopulmonary Bypass ◽  
Coronary Artery ◽  
Coronary Artery Bypass Grafting ◽  
Coronary Artery Bypass ◽  
Urine Output ◽  
Artery Bypass ◽  
Kidney Injury ◽  
Urinary Output ◽  
Bypass Grafting

Objective: This study evaluated the relationship between the amount of urinary output during cardiopulmonary bypass and acute kidney injury in the postoperative period of coronary artery bypass grafting.Methods: Two hundred patients with normal preoperative serum creatinine levels, operated on with isolated CABG between 2012-2014 were investigated retrospectively. The RIFLE (Risk, injury, failure, loss of function, and end-stage renal disease) risk scores were calculated for each patient in the third postoperative day. Patients were distributed into two groups in relation to the presence of acute kidney injury or not and these two groups were compared.Results: The urinary output (mL/kg/hour) during cardiopulmonary bypass in the acute kidney injury negative group was significantly higher than in the acute kidney injury positive group (P = .022). In case of a urinary output value 3.70 and lower to predict acute kidney injury positivity, sensitivity was detected as 71.43%. Results of the analysis for urinary output predict positivity of acute kidney injury.Conclusion: We suggest that urine output during cardiopulmonary bypass is a significant criteria that could predict acute kidney injury following coronary artery bypass grafting with cardiopulmonary bypass. Attempts to increase the urine output during cardiopulmonary bypass could help to maintain the renal functions during and after surgery.

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