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Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency with malabsorption, malnutrition, growth failure and bone marrow failure. Furthermore, duodenal inflammatory enteropathy features may be present. For the first time, we report here a SDS case that is also diagnosed with inflammatory bowel disease (IBD). He was diagnosed with SDS at the age of two based on poor growth, severe exocrine pancreatic insufficiency with steatorrhea, neutropenia, recurrent infections and thoracic skeletal abnormalities. Ileocolonoscopy and histopathology revealed colonic Crohn's disease at the age of sixteen. Our report may encourage further studies elucidating the possible association between the SDS genetic defect and inflammatory bowel disease., (Copyright © 2019 Elsevier Masson SAS. All rights reserved.)

Background: In clinical practice, the glomerular filtration rate (GFR) is often estimated from plasma creatinine. Several studies have shown cystatin C (cys C) to be a better parameter for the diagnosis of impaired renal function. No data are available, however, on the performance of cys C in follow-up of patients, compared with creatinine. Also, comparisons of cys C with the Cockcroft and Gault (C&G) formula for estimation of GFR are few., Methods: Plasma samples were obtained from 93 consecutive patients seen for GFR determination and from 30 patients with diabetes mellitus type 2, of whom 23 were investigated a second time after 2 years. GFR was determined with [125I]iothalamate. Plasma creatinine was determined enzymatically and the creatinine clearance calculated according to C&G. Cys C was measured with a particle-enhanced immunonephelometric method., Results: GFR correlated with 1/cys C (r = 0.873) as well as with C&G (r = 0.876). The area under the curve (AUC) of the receiver operating curves (ROCs), a measure of diagnostic accuracy, for cys C (0.931) and C&G (0.938) were equal (P = 0.815) and both better than the creatinine AUC (0.848; P = 0.006). Bland and Altman analysis showed that the simple formula GFR = -4.32 + 80.35 x 1/cys C, derived from our data, gave more accurate (P < 0.0001) and more precise (P = 0.024) GFR estimates than obtained with the C&G formula. The day-to-day variation (biological +analytical) for cys C was small (3.1%, SD 2.51%) in diabetic patients. In the follow-up study in diabetic patients, cys C was the parameter which had the best correlation (r = 0.66) with changes in GFR., Conclusions: Cys C shows a high correlation with GFR. With a very simple formula, cys C gives a good estimate of GFR, more accurate and precise than C&G. Because biological variation is low, cys C gives also a good assessment of GFR changes during follow-up. Cys C is the preferred endogenous parameter for GFR.

Background: The glomerular filtration rate (GFR) can be predicted from plasma creatinine, age, gender, and body weight, using the formula of Cockcroft and Gault. Cimetidine improved the accuracy of GFR prediction in renal disease and also in diabetes mellitus type 2, due to inhibition of tubular creatinine secretion. We compared the accuracy and precision of GFR prediction from the Cockcroft-Gault formula without cimetidine (CG), with cimetidine (CGcim) and from the creatinine clearance without cimetidine in renal transplant recipients., Methods: CG and CGcim were calculated from plasma creatinine before and after 2400 mg of oral cimetidine during the 24 hr preceding the GFR measurement. The endogenous creatinine clearance was measured in 24 outpatients from a 24-hr urine collection (Ccr24) before cimetidine. GFR was measured as the urinary clearance of continuously infused 125I-iothalamate. Creatinine was determined with an automated enzymatic assay in plasma and with an alkaline picrate assay in urine., Results: GFR was 47.8+/-16.8 ml/min/1.73 m2 (mean+/-SD), Ccr24 was 71.8+/-23.1 ml/min/1.73 m2, CG was 62.2+/-15.2 ml/min/1.73 m2, and CGcim was 52.8+/-14.9 ml/min/1.73 m2. Ccr24 overestimated GFR in every patient by an average of 23.8 ml/min/1.73 m2 and CG by an average of 14.3 ml/min/1.73 m2, whereas CGcim overestimated GFR significantly less by an average 4.9 ml/min/1.73 m2 (P<0.001). The precision of CGcim was significantly better than that of Ccr24: the SD of the difference from GFR was 9.0 ml/min/1.73 m2 for CGcim and 14.5 ml/min/1.73 m2 for Ccr24 (P<0.05)., Conclusion: CGcim is useful for GFR prediction in outpatient renal transplant recipients and has a far better accuracy and precision than Ccr24 and also a better accuracy than CG. We propose a strategy after kidney transplantation of one GFR measurement at baseline and follow-up with CGcim.

Objective: Analysis of the interference of ketoacids on various routine plasma creatinine assays during a clinical episode of diabetic ketoacidosis (DKA)., Design: Observational study. Blood samples were drawn before, during and after standard in-hospital treatment. Plasma creatinine was measured with two dissimilar enzymatic assays (creatininase PAP + and creatinine iminohydrolase Serapak), a kinetic alkaline picrate method (Jaffé) and a high-performance liquid chromatography (HPLC) procedure. Acetoacetate and beta-hydroxybutyrate were analysed by enzymatic methods., Setting: Department of Medicine, University Hospital., Subjects: Nine patients who experienced 10 episodes of DKA., Main Outcome Measures: Agreement of the routine plasma creatinine assays with HPLC and analysis of possible interferents., Results: At presentation, the Jaffé assay gave falsely high values of plasma creatinine (median 99 micromol L(-1)), in contrast to the PAP+ (median 60.5 micromol L(-1)) and HPLC assays (median 67.5 micromol L(-1)). This positive error decreased during treatment. This was due to a decrease in acetoacetate, as the positive error by the Jaffé method correlated with the acetoacetate concentration (r = 0.79, P < 0.0001). In the multiple regression analysis, beta-hydroxybutyrate caused no additional interference by the Jaffé assay, confirmed by in vitro experiments. Analysis of agreement showed that the difference between PAP+ and HPLC creatinine was -4.6 +/- 3.0 micromol L(-1) (mean +/- SD), and 2.0 +/- 5.3 micromol L(-1) between Serapak and HPLC. This was statistically significant, but clinically negligible., Conclusion: Acetoacetate caused severe interference of the alkaline picrate (Jaffé) assay, which might influence therapeutic decisions at the start of diabetic ketoacidosis. Enzymatic assays lack this interference.

Background: The glomerular filtration rate (GFR) can be estimated from plasma creatinine according to the formula of Cockcroft and Gault (CG). When tubular secretion of creatinine is inhibited by cimetidine the mean difference between the Cockcroft-Gault clearance (CG(Cim) and GFR approximates zero, but there is still some interindividual difference, especially in type-2-diabetic patients. We studied during longitudinal follow-up, whether the discrepancies between CG(Cim) and GFR per patient are consistent in time in type-2-diabetic patients., Patients and Methods: In 1996 and 1998 (interval 20-26 months) GFR was measured in 21 patients as the urinary clearance of continuously infused 125I-iothalamate. Plasma creatinine was analyzed with an enzymatic assay before and after oral cimetidine 800 mg t.i.d. during 24 hours. GFR estimations were calculated with the Cockcroft-Gault formula before (CG) and after cimetidine (CG(Cim)) and expressed as means +/- SEM., Results: GFR deteriorated from 89.7 +/- 5.7 to 81.3 + 5.8 ml/min/1.73 m2 and CG(Cim) from 85.3 +/- 5.7 to 81.1 +/- 6.6 ml/min/1.73 m2, whereas CG decreased from 102.4 +/- 6.8 to 98.4 +/- 7.0 ml/min/1.73 m2. Changes in GFR and changes in CG(Cim) were correlated (r = 0.72, p < 0.001) and were not significantly different from each other. The discrepancy between CG(Cim) and GFR per patient in 1996 also correlated with the discrepancy between CG(Cim) and GFR in 1998 (r = 0.85, p < 0.001 )., Conclusions: In individual patients the discrepancies between the CG(Cim) and GFR are consistent in time and the change in GFR is reflected by the change in CG(Cim). This small variability means that CG(Cim), based on an enzymatic plasma creatinine assay, would be suitable for follow-up of GFR in type-2-diabetic patients, independent of albuminuria.

Background: Estimation of glomerular filtration rate (GFR) from plasma creatinine concentration after inhibition of tubular creatinine secretion with cimetidine provides a good assessment in patients with various nephropathies and with non-insulin-dependent diabetes mellitus (NIDDM). The aim of this study was to compare cimetidine-aided GFR estimations using various creatinine assays., Methods: In 30 outpatients with NIDDM GFR was measured as the urinary clearance of continuously infused [125I]iothalamate. Plasma creatinine concentration was analysed after oral cimetidine with an alkaline picrate (AP) method, with an enzymatic (PAP) assay and with HPLC. GFR estimations were calculated with the Cockcroft Gault formula (CG)., Results: AP creatinine concentrations were significantly higher than PAP or HPLC values. GFR estimations by AP (CG(AP) 66 +/- 19 ml/min/1.73 m2, mean SD) were significantly lower than GFR (89 +/- 30), whereas CG(PAP) (85 +/- 30) and CG(HPLC) (84 +/- 34 ml/min/1.73 m2) were not. Bland and Altman analysis showed a difference between CG(AP) and GFR of -22.4 +/- 17.7 ml/min/1.73 m2; this difference becomes larger when the GFR increases. The difference between CG and GFR was only -3.8 +/- 14.8 ml/min/1.73 m2 for PAP and -4.4 +/- 17.5 ml/min/1.73 m2 for HPLC, without any systematic difference., Conclusion: A good assessment of the GFR from plasma creatinine after cimetidine administration is possible when creatinine is measured with an enzymatic assay or with the less convenient HPLC method. The more widespread and cheaper alkaline picrate assay is not suitable for GFR-estimation.

Objective: Glomerular filtration rate (GFR) can be estimated in patients with renal disease from plasma creatinine concentration, age, sex, and body weight according to the formula of Cockcroft and Gault. The hypothesis that this method can be improved when tubular secretion of creatinine is inhibited by cimetidine was studied in NIDDM patients., Research Design and Methods: In 30 outpatients with NIDDM and normo- (n = 10), micro- (n = 9), or macroalbuminuria (n = 11), GFR was measured as the urinary clearance during continuous infusion of 125I-labeled iothalamate. Plasma creatinine concentration was analyzed with an enzymatic assay before and after 800 mg t.i.d. oral cimetidine was given during a 24-h period., Results: Plasma creatinine rose in all patients after cimetidine administration and, as a consequence, the clearance calculated with the Cockcroft-Gault formula fell. The ratio of this formula and GFR decreased from 1.16 +/- 0.20 to 0.97 +/- 0.16 (means +/- SD). This ratio tended to be smaller in the normo- (0.93) than in the micro- (0.98) and macroalbuminuric (1.00) groups. Also, 20 patients with a BMI < 30 kg/m2 had a smaller ratio than those with a BMI > 30 kg/m2 (0.92 vs. 1.07; P < 0.05). Bland and Altman analysis showed a difference of the Cockcroft-Gault formula and GFR of 12.0 +/- 17.4 ml.min-1 (1.73 m2)-1, which decreased to -3.8 +/- 14.8 ml.min-1.(1.73 m2)-1. The same analysis of 24-h creatinine clearance with urine collection and GFR showed larger standard deviations., Conclusions: GFR can be estimated in an acceptable way from plasma creatinine concentration after cimetidine administration in outpatients with NIDDM. Despite a nonsignificant underestimation in normoalbuminuric and overestimation in overweighted patients, this method is superior to 24-h creatinine clearance with outpatient urine collection.

Hypopotassaemic periodic paralysis as the sole manifestation of hyperthyroidism. Hypopotassaemic periodic paralysis is a rare disorder that is found in certain families, sporadically or in association with certain diseases. The association with hyperthyroidism is almost wholly restricted to south-east Asian males. It is characterized by attacks of subacute paralysis, starting most often early in the morning and lasting some hours to a few days. We present a 42-year-old patient of Indonesian origin, who experienced four attacks of paralysis before underlying hyperthyroidism was diagnosed. The mechanism is based on potassium shift into the muscle cell due to higher activity of the Na-K-ATP-ase pump, under the influence of beta-adrenergic stimulation and thyroid hormone. Treatment with antithyroidal medication and beta-blockers led to the complete abolition of attacks.

A 3-centre study was done to analyse the results of 70 patients with end-stage renal disease caused by diabetic nephropathy and treated with CAPD. Fifty patients had insulin-dependent diabetes (mean age 42, mean duration of diabetes 24 yr); 20 had non-insulin-dependent diabetes (mean age 61, mean duration 15 yr). Total treatment time was 1563 months and ranged from one to 83 months (median 18). Patient survival was 86% at 1 yr and 33% at 4 yr. Technique survival was 87% and 63%. Cox's multiple hazard regression analysis showed that age above 45 yr (relative risk 2.2), systolic hypertension (2.6) and cardiac disease (2.2) at the start of CAPD were associated with shorter patient survival. Metabolic control was good. Haemoglobin rose during the first 3 months. Plasma creatinine concentration increased with time, probably due to the loss of residual renal function. HbA1c levels were in the normal range for 60% of the patients. Mean hospital stay was 42 days per year, 26 as a consequence of vascular complications and 16 due to peritonitis and catheter-related problems. We conclude that CAPD is a good renal replacement modality for patients with diabetic renal failure. The patient survival is dependent on age, systolic hypertension and cardiac disease at the start of CAPD.