Search PubMed⌕ Search

Biomedical subjects

W Proesmans

Publications and source records attributed to W Proesmans.

At least 55 records · Page 3Linked to original sources
PubMed1996

Typical and atypical hemolytic uremic syndrome.

The hemolytic uremic syndrome is the most frequent cause of acute renal failure in childhood. In the vast majority of patients, the syndrome of acute hemolysis, thrombopenia and renal dysfunction is preceded by an episode of diarrhea with or without bloody stools. This colitis is caused by different strains of Escherichia coli which produce shiga like toxins. These toxins are responsible for both hemolysis and renal disease. There are good reasons for distinguishing patients with D (+) HUS and those without prodromal diarrhea [D (-) HUS], especially since the outcome in the latter group is less predictable and on average fairly unfavorable. D (+) HUS has also been labeled 'typical HUS' and D (-) HUS as 'atypical HUS'. This has led to some oversimplification, in that atypical has become synonymous with poor outcome. Our experience comprises 20 D (-) HUS patients, of whom 14 did extremely well. Scrutinizing the data of our patients lead to the conclusion that, within the D (-) group, some have a 'typical course' and display complete cure whereas those with an 'atypical course' either die or have severe sequelae.

Diarrhea↗
PubMed1996

Normal fibrinolytic responses to 1-desamino-8-D-arginine vasopressin in patients with nephrogenic diabetes insipidus caused by mutations in the aquaporin 2 gene.

Three patients with autosomal-recessive nephrogenic diabetes insipidus (NDI), homozygous for mutations in the aquaporin 2 gene (AQP2), were tested for their fibrinolytic and hemodynamic responses to intravenous administration of 1-desamino-8-D-arginine vasopressin (DDAVP). They all showed an increase of tissue-type plasminogen activator antigen, facial flushing, an increase of heart rate and a decrease of diastolic blood pressure. These results confirm the hypothesis that NDI patients with an AQP2 defect can be discriminated from NDI patients with a vasopressin type 2 receptor defect by their normal extrarenal responses to DDAVP.

Adolescent↗
PubMed1995

Diaphragmatic hernia in Denys-Drash syndrome.

We report on a newborn infant with male pseudohermaphroditism and glomerular lesions (Denys-Drash syndrome) but without Wilms tumor. A constitutional heterozygous mutation in the WT1 gene (366Arg to His) was identified. In addition the child had a large diaphragmatic hernia, so far not described in Denys-Drash syndrome. The expression of the WT1 gene in pleural and abdominal mesothelium and the occurrence of diaphragmatic hernia in transgenic mice with a homozygous WT1 deletion strongly suggests that the diaphragmatic hernia in this patient is part of the malformation pattern caused by WT1 mutations.

Animals↗
PubMed1995

Tumour-induced rickets: a case report and review of the literature.

UNLABELLED: Hypophosphataemic rickets was diagnosed in a 6-year-old boy with a negative family history. After 16 years of medical treatment he developed a malignant sarcoma of the right distal thigh. Removal of the tumour by high amputation of the leg resulted in disappearance of the phosphate leak. In spite of surgery and chemotherapy, the patient died due to extensive lung metastases. Retrospective analysis of the initial X-ray films showed a benign lesion on the lateral side of the right distal femur. This lesion is believed to be at the origin of the rickets. This is the first paediatric case reported with malignant degeneration of a benign tumour causing rickets. CONCLUSION: Patients with the classical hallmarks of X-linked, familial hypophosphataemic rickets but no affected family members should have a careful periodic search for a tumour, even years after onset of the disorder.

Child↗
PubMed1995

Vitamin D metabolites in childhood nephrotic syndrome.

We measured serum levels of total and ionised calcium, phosphate, intact parathyroid hormone, 25-hydroxyvitamin D [25(OH)D], 1,25-dihydroxyvitamin D [1,25(OH)2D] and the vitamin D binding protein (DBP) in 14 children with idiopathic nephrotic syndrome and 10 healthy, age-matched controls. In all nephrotics serum DBP levels were below the normal range. Serum 25(OH)D was below 7 ng/ml in 10 of 14 nephrotic children and in the low normal range in the remaining 4 patients. The average serum 1,25(OH)2D levels were lower in the nephrotic patients than in the controls. However, free 1,25(OH)2D levels were normal in the nephrotic patients. Both serum 25(OH)D and 1,25(OH)2D correlated positively with the concentration of DBP. There was a significant negative correlation between serum DBP levels and the urinary protein excretion and a significant positive correlation between the urinary excretions of DBP and albumin. From this study it can be concluded that the nephrotic child is capable of maintaining appropriate serum concentrations of free calcitriol despite important urinary losses of both substrate and bound calcitriol.

Adolescent↗
PubMed1995

Serum proteins in the haemolytic uraemic syndrome.

In 122 patients with the haemolytic uraemic syndrome (HUS), serum proteins were analysed in the acute phase of the disease (n = 122) and 6 weeks (n = 57) and 6 months (n = 84) later. Total serum protein levels were significantly lower on admission than 6 weeks and 6 months later (P < 0.0001). The same was true for median values of serum albumin (P < 0.0001), alpha 2-globulins (P < 0.0001) and gamma-globulins (P < 0.001). There was no difference in beta-globulins, whereas the alpha 1-globulins were significantly higher in the acute phase (P < 0.0001). There was a significant positive correlation between age and total protein and gamma-globulin levels. Serum total protein and albumin levels displayed a significant positive correlation with serum sodium levels and a significant negative correlation with urinary protein excretion. Patients with oligoanuria had significantly lower serum albumin and significantly higher alpha 1-globulin levels than those with preserved urine production. Marked differences were observed between patients with (D+) and patients without (D-) prodromal diarrhoea. In D(-) HUS, only albumin and total protein levels were lower on admission, but to a lesser degree than in D(+) HUS. Serum alpha 1-globulin levels were significantly higher and alpha 2-globulin levels significantly lower in D(+) HUS than D(-) HUS. In the D(+) subgroup of patients, by far the largest, there was a significant positive correlation between serum albumin and total protein on the one hand and the duration of the prodrome on the other.(ABSTRACT TRUNCATED AT 250 WORDS)

Blood Proteins↗
PubMed1995

Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females.

X-linked Alport syndrome (AS) associated with diffuse esophageal leiomyomatosis (DL) has been reported to be due to deletions removing the 5' ends of both the COL4A5 and COL4A6 genes, encoding the alpha 5 and alpha 6 chains of type IV collagen, respectively, whereas a variety of mutations in COL4A5 has been identified in patients with AS alone. Here we report three additional DL-AS patients who also display deletions removing the 5' ends of both COL4A5 and COL4A6 genes. Furthermore, we tracked the mutation in 15 females belonging to six DL-AS families by gene copy number determination. We found that, like AS, DL is transmitted as an X-linked dominant trait but, contrary to AS, DL is fully penetrant and completely expressed in females. These results are in agreement with our previous work suggesting that DL could be due to a dominant effect of an abnormal alpha 6 (IV) collagen chain. Finally, we have detected a similar deletion of the COL4A5 and COl4A6 genes in a DL affected female who showed no sign of nephropathy, demonstrating the AS carrier status of this DL patient. These results emphasize the importance of molecular analysis of female DL patients for genetic counseling.

Adult↗
PubMed1995

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.

Diffuse oesophageal leiomyomatosis (DL), an inherited smooth muscle proliferation process, has been reported to be associated with Alport syndrome (AS), a familial nephropathy, mainly dominant X-linked inherited, and characterized by ultrastructural changes of the glomerular basement membrane. The COL4A5 gene, encoding the alpha 5 chain of type IV collagen, has been identified as the site of mutations in families with X-linked AS. Recently, a novel alpha 6(IV) collagen chain encoding gene has been mapped closely upstream of COL4A5, and disruption of the 5' end of both genes has been reported in four patients with DL and AS (DL-AS). Here, we report a long-range restriction map around the COL4A6 locus, and show that the COL4A5/COL4A6 deletion observed in seven patients with DL-AS encompasses only the two first exons of COL4A6, with a breakpoint located in the second intron of COL4A6, whose size exceeds 65 kb. Furthermore, we demonstrate that three patients with AS without DL, known to have a deletion of the 5' part of the COL4A5 gene, display a larger deletion in COL4A6. Moreover, a COL4A6 mRNA product was detected by reverse-transcription-polymerase chain reaction in an oesophageal tumour sample of a patient with DL-AS. These results suggest that DL-AS could be caused by an abnormal truncated alpha 6(IV) chain.

Adolescent↗
PubMed1995

Results of endoscopic treatment for vesico-ureteric reflux.

The 1.5- to 8-year results of endoscopic injection of polytetrafluoroethylene for reflux are described. We obtained a 70% complete and long-lasting success rate after a single injection. More than the degree of reflux, the configuration of the ostium determines the results. Implications of the product in the later life of the children are discussed.

Child↗
PubMed1994

Plasma renin activity in haemolytic uraemic syndrome.

Plasma renin activity (PRA) was measured in 50 consecutive patients (aged 4 months to 12 years) admitted during the acute phase of the haemolytic uraemic syndrome (HUS). Blood samples were taken as soon as the diagnosis was made and prior to any diuretic, anti-hypertensive or dialysis treatment. Prodromal diarrhoea was present in all but 3 patients, 17 were anuric and 12 were oliguric. PRA ranged from 0.3 to 24.2 ng/ml per hour and was low compared with values in normal infants and children: in 13 HUS patients PRA was above the median and in 37 it was below the median. PRA was significantly, independently and inversely related to age. There was no correlation, however, with blood pressure, urine output, volume status and serum levels of sodium, potassium and creatinine. Moreover, no relationship was found between PRA and the course of the disease. Our findings do not support the idea that renin activation plays a role in the pathophysiology of the haemolytic uraemic syndrome.

Acute Disease↗
PubMed1994

Successful treatment of recurrent thrombotic thrombocytopenic purpura with plasmapheresis and vincristine.

An adolescent girl with severe thrombotic thrombocytopenic purpura (TTP) remained in a critical condition after 3 weeks of combined treatment with antiplatelet drugs, plasma infusions and plasma exchange. The introduction of vincristine resulted in gradual improvement and eventual complete remission which lasted for 2 years. When she relapsed, immediate improvement was observed with the combined treatment of plasmapheresis and vincristine. She has now been in complete remission again for 10 months. It is suggested that plasmapheresis plus vincristine should be used as the initial treatment for children with TTP.

Adolescent↗
PubMed1994

Subcutaneous recombinant erythropoietin in preterminal renal insufficiency.

Recombinant human erythropoietin was given to eight children and adolescents with stable chronic renal failure in the predialysis state. The hormone was administered subcutaneously, twice weekly for 12 weeks, at a starting dose of 50 U/kg per week. The dosage was adapted every 4th week. Target haemoglobin was 10.5-11.5 g/dl, and the target haematocrit 32%-35%. Baseline haemoglobin levels of 8.20 +/- 0.93 g/dl increased to 9.17 +/- 1.10, 10.38 +/- 1.18 and 11.19 +/- 0.84 g/dl (mean +/- SD) after 4, 8 and 12 weeks respectively. Serum ferritin levels decreased progressively despite iron supplementation. No side-effects were observed: creatinine clearances remained stable, blood pressure did not increase and none of the patients displayed either convulsions or thrombotic features. The study shows that subcutaneous recombinant human erythropoietin is both effective and safe in anaemic children and adolescents with chronic renal insufficiency.

Adolescent↗
PubMed1994

Total body mineral mass measured with dual photon absorptiometry in healthy children.

Using dual photon absorptiometry, bone mineral content (BMC) and bone mineral density (BMD) of the total body and the lumbar spine were assessed in 97 healthy, Caucasian children aged 3-14 years. Excellent correlations were found between BMC and BMD on the one hand and age, body height and body weight on the other. No differences were found between boys and girls. There was a strong correlation between lumbar spine measurement as compared to those of the total body. Regression equations for total body and the different parts of the skeleton were calculated with either BMC or BMD as the dependent variable, and age, body height and body weight as independent variables. High variation coefficients were obtained in these multiple regressions, except for the head. For total body BMC and total body BMD, growth charts were constructed using Tanner and Whitehouse data on body height and body height and body weight. Conclusions. The increase in total body mineral content is an important feature of normal growth. Normal data for BMC and BMD in childhood are essential for bone mineralisation abnormalities in paediatric patients.

Absorptiometry, Photon↗