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Biomedical subjects

W Proesmans

Publications and source records attributed to W Proesmans.

At least 37 records · Page 2Linked to original sources
PubMed1998

Rapidly progressive glomerulonephritis in a boy with hypocomplementaemic urticarial vasculitis.

UNLABELLED: The present paper reports the fourth case of hypocomplementaemic urticarial vasculitis in a child. We describe a boy who, after many years of arthritis, urticaria, eye inflammation and hypocomplementaemia, developed rapidly progressive glomerulonephritis which was completely reversed by immunosuppressive therapy. CONCLUSION: Only three paediatric patients with hypocomplementaemic urticarial vasculitis have been described. Severe renal involvement was reversible with early appropriate treatment.

Adrenal Cortex Hormones↗
PubMed1998

Vesico-ureteral reflux: a genetic condition?

Vesico-ureteral reflux (VUR) is a frequent condition, but in most instances, the precise cause is unknown. We here review the evidence of a genetic aetiology of VUR, inherited as an autosomal dominant trait, with variable expression. We discuss the possible pathogenetic relationship between VUR and other types of uropathies and possible strategies towards the identification of genes underlying VUR are presented. The isolation of the gene(s) responsible for uropathies will not only lead to a better insight into the embryology of the urological system, the pathogenesis of uropathies, but also to a renewed interest from clinicians in congenital uropathies.

Child↗
PubMed1998

Multicystic kidney dysplasia: a prospective study on the natural history of the affected and the contralateral kidney.

UNLABELLED: In a 6-year period, 41 young infants with multicystic kidney dysplasia were seen in our department. In 30 cases, the diagnosis had already been suspected by prenatal ultrasonography. A prospective protocol was proposed to the parents which comprised ultrasound evaluation every 3 months until the age of 24 months and renal function assessment at the age of 18 months. In 33 patients, the study was completed as scheduled. At the start of the study, the maximal diameter of the multicystic kidney was above the mean length of normal kidneys in all cases where precise measurement was possible. Within 24 months, 7 of the dysplastic kidneys disappeared, 20 regressed in size, 1 remained unchanged and only 5 increased in size. Between the age of 0 to 3 months, renal length of the contralateral kidney was within the normal range in 19 infants and above +2SD in 14 cases. At the age of 18 to 24 months, renal length was, with few exceptions, between 0 and +4SD. Inulin clearance was normal in all 33 individuals with a median value of 112 ml/min per 1.73 m2. CONCLUSION: As a rule, multicystic kidneys shrink in the first 2 years of life. In most cases the contralateral kidney maintains a normal renal function as a consequence of progressive compensatory hypertrophy.

Child↗
PubMed1998

Chronic renal failure in infants: effect of strict conservative treatment on growth.

UNLABELLED: Twenty infants with chronic renal failure from the first weeks of life, received strict conservative treatment consisting of a protein-restricted, calorie-enriched diet, supplements of essential amino acids, sodium chloride, sodium bicarbonate, calcium and vitamin D. The last 10 patients also received erythropoietin. Neither nasogastric nor gastrostomy tubes were used in any of these patients. Four patients needed dialysis in the second half of the 1st year of life. We analysed the patients' growth in weight, height and head circumference from birth until the age of 12 months. At the age of 12 months, mean values of height, weight and head circumference SDS were -1.63, -1.53 and -1.01 respectively as compared to healthy children. The body length data also compare favourably with those from a large cohort of chronic renal failure patients collected by the European Study Group for Nutritional Treatment of Chronic Renal Failure in Childhood; here the mean height SDS at 12 months of age is -3.3. CONCLUSION: This retrospective analysis shows that the generally observed progressive growth retardation in infants with chronic renal failure can be prevented by early and adequate conservative management.

Body Height↗
PubMed1998

Neonatal Bartter syndrome: spontaneous resolution of all signs and symptoms.

This baby boy was born after a pregnancy complicated by severe polyhydramnios at a gestational age of 28 weeks. Analysis of the amniotic fluid had shown a high chloride content, but normal concentrations of sodium, potassium, and calcium. After birth he displayed extreme polyuria, severe renal sodium and chloride loss, and marked hypercalciuria. Five weeks after birth, his sodium chloride loss turned into renal potassium loss, along with a marked decrease in urine output. All these features are characteristic of the neonatal variant of Bartter syndrome. He was discharged after 11 weeks with oral supplements of sodium chloride, potassium gluconate, and 500 ml of fluid. The follow-up for a period of 6 years showed a surprising evolution: he has no hypokalemic alkalosis, no polyuria, and no hypercalciuria; growth and development are within the normal ranges and, at the time of writing, he is a healthy boy needing no medication and with no medical problems whatsoever.

Bartter Syndrome↗
PubMed1998

Activation of both coagulation and fibrinolysis in childhood hemolytic uremic syndrome.

BACKGROUND: Thrombotic microangiopathy is the fundamental lesion in diarrhea-associated hemolytic uremic syndrome. The extent of the lesion in the renal parenchyma determines the severity and outcome of the disorder, bilateral renal cortical necrosis being the worst end of the spectrum. In the early years, intravascular coagulation was considered the most important pathogenic mechanism. Yet, individual coagulation factors were normal in the vast majority of patients and therapy with anticoagulants did not alter the course. Recent studies indicate that impaired fibrinolysis might be of importance. METHODS: We studied seven variables of the coagulation pathway (PT, aPTT, fibrinogen, FVIII:c, von Willebrand factor, thrombin-antithrombin complexes, prothrombin fragments 1+2) and seven parameters of the fibrinolytic system (plasminogen, alpha2-antiplasmin, C1-esterase inhibitor, tissue-type plasminogen activator, urokinase-type plasminogen activator, plasminogen activator inhibitor type 1, D-dimer) in 24 pediatric patients with diarrhea-associated hemolytic uremic syndrome and in 15 children with acute renal failure not due to hemolytic uremic syndrome. Samples were collected at diagnosis and every second day thereafter for a period of ten days. Additional samples were collected from patients who underwent dialysis, that is, before and after each session from those subjected to hemodialysis and every day from those subjected to peritoneal dialysis. The obtained data were compared with data from a control group consisting of healthy children. RESULTS: Our data show four important features. (1) A significant increase in both thrombin-antithrombin complexes (P < 0.005) and prothrombin fragments 1 + 2 (P < 0.001) is observed in hemolytic uremic patients as compared to patients with acute renal failure of other causes. This finding is clearly indicative for an activation of the coagulation pathway. (2) Patients with the hemolytic uremic syndrome have significantly higher D-dimer levels, a sensitive marker of fibrin-specific fibrinolysis, as compared to patients with acute renal failure of other causes (P < 0.005). (3) Levels of plasminogen activator inhibitor-1 (active antigen as well as plasminogen activator inhibitor-1 activity) are not different in both patient groups. In contrast, plasma levels of tissue-type plasminogen activator and urokinase-type plasminogen activator are significantly higher in the hemolytic uremic patients than in those with acute renal failure of other causes (P < 0.01 and P < 0.05 respectively). (4) Hemodialysis leads to an increase in tissue-type plasminogen activator antigen and a decrease of plasminogen activator inhibitor-1 activity levels. CONCLUSIONS: Our data demonstrate that in children with diarrhea-associated hemolytic uremic syndrome, limited intravascular coagulation occurs, without evidence of impaired fibrinolysis.

Acute Kidney Injury↗
PubMed1998

Human complement factor H deficiency associated with hemolytic uremic syndrome.

This study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS.

Acute Disease↗
PubMed1997

Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis.

A 3.3 year old girl with Prader-Willi syndrome (PWS) and mosaicism for two aneuploidies, 47,XXX and 47,XX,+15, is presented. The triplo-X cell line was found in white blood cells and fibroblasts, the trisomy 15 cell line in 50% of the fibroblasts. Using methylation studies of the PWS critical region and by polymorphic microsatellite analysis, the existence of uniparental maternal heterodisomy for chromosome 15 was shown in white blood cells. This provided a molecular explanation for the PWS in this child. In fibrolasts, an additional paternal allele was detected for markers on chromosome 15, which is in agreement with the presence of mosaicism for trisomy 15 in these cells. This example provides direct evidence for trisomic rescue by reduction to disomy as a possible basis for PWS. Whereas the trisomy 15 was caused by a maternal meiosis I error, the triplo-X resulted from a postzygotic gain of a maternal X chromosome, as shown by the finding of two identical maternal X chromosomes in the 47,XXX cell line. Because the triplo-X and the trisomy 15 were present in different cell lines, gain of an X chromosome occurred either in the same cell division as the trisomy 15 rescue or shortly before or after.

Alleles↗
PubMed1997

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

Renal-coloboma syndrome is a recently described autosomal dominant syndrome of abnormal optic nerve and renal development. Two families have been reported with renal-coloboma syndrome and mutations of the PAX2 gene. The PAX2 gene, which encodes a DNA-binding protein, is expressed in the developing ear, CNS, eye, and urogenital tract. Ocular and/or renal abnormalities have been consistently noted in the five reports of patients with renal-coloboma syndrome, to date, but PAX2 expression patterns suggest that auditory and CNS abnormalities may be additional features of renal-coloboma syndrome. To determine whether additional clinical features are associated with PAX2 mutations, we have used PCR-SSCP to identify PAX2 gene mutations in patients. We report here four patients with mutations in exon 2, one of whom has severe ocular and renal disease, microcephaly, and retardation, and another who has ocular and renal disease with high-frequency hearing loss. Unexpectedly, extreme variability in clinical presentation was observed between a mother, her son, and an unrelated patient, all of whom had the same PAX2 mutation as previously described in two siblings with renal-coloboma syndrome. These results suggest that a sequence of seven Gs in PAX2 exon 2 may be particularly prone to mutation.

Abnormalities, Multiple↗
PubMed1996

Verocytotoxin-producing Escherichia coli infection in hemolytic uremic syndrome in part of western Europe.

UNLABELLED: From September 1989 until September 1993, stool specimens and sera from 113 children with diarrhoea-associated haemolytic uraemic syndrome (HUS) from the Netherlands, two university hospitals in Belgium and one university hospital in Germany were examined for the presence of verocytotoxin-producing Escherichia coli (VTEC) infection. Evidence for VTEC infection was observed in 88 (78%) patients with HUS compared to 2 (3%) of the 65 children with acute gastro-enteritis Serotype O157 was the causative agent in 76 (86%) of these 88 patients with VTEC-associated HUS and verocytotoxin-2 (VT-2) was the most frequent toxin produced. Serological testing for antibodies to O157 O-antigen yielded the highest number of positive results compared to the other test methods. Antibodies to O157 were found in sera of 71 (65%) of 110 patients with HUS and one control serum. Stool and sera examination for VTEC in 95 family contacts of 28 patients with HUS demonstrated an evidence for VTEC infection 33 (35%). In contrast, in patients with HUS serological antibodies to O157 O-antigen were found in only 3 (4%) of 85 family contacts. CONCLUSION: In this part of Western Europe, VT2-producing Escherichia coli, mainly those belonging to serogroup O157, are the major cause of HUS in childhood.

Bacterial Toxins↗
PubMed1996

Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome?

UNLABELLED: A child with the tentative diagnosis of Alagille syndrome is reported. Additional renal abnormalities are unilateral kidney agenesis and a kidney with subcortical cysts with decreased function. At the age of 5 years, insulin-dependent diabetes mellitus developed, with the pancreas being atrophic and negative pancreatic islet cell antibodies. CONCLUSION: This observation extends the picture of Alagille syndrome and suggests an overlap with renal-hepatic-pancreatic dysplasia (Ivemark syndrome).

Alagille Syndrome↗
PubMed1996

Alport syndrome: clinical experience with 21 paediatric patients.

UNLABELLED: The clinical, histological and genetic features of Alport syndrome are presented and illustrated by our experience with 21 paediatric patients seen over the last 22 years. From the 15 boys, 7 went into end-stage renal failure before the age of 20 years. In the 6 girls, the symptomatology was limited to permanent haematuria and mild proteinuria. CONCLUSION: Alport syndrome should be included in the differential diagnosis of permanent haematuria even in the absence of any suggestive familial antecedent.

Age of Onset↗
PubMed1996

Long-term therapy with enalapril in patients with nephrotic-range proteinuria.

The effect of enalapril on urinary protein excretion and renal function was studied in six paediatric patients with various renal diseases causing nephroticrange proteinuria. In three younger children (aged 7-9 years) with steroid-resistant nephrotic syndrome, enalapril at a dose of 0.5 mg/kg per day given for 24 months yielded a temporary reduction of proteinuria in one child, a moderate and steady decrease in another and a complete disappearance of proteinuria in the third. Three adolescents, aged 17 years, took enalapril for 24 months at a dose of 20 mg/day. We observed no effect on proteiuria in one patient with Alport syndrome, a complete disappearance of urinary protein in one patient with membranoproliferative glomerulonephritis and a moderate decrease in the third patient who had idiopathic steroid-resistant nephrotic syndrome. Enalapril therapy resulted in an important reduction of proteinuria in two patients and a moderate decrease in three others. However this therapy was accompanied by a fall in glomerular filtration in all subjects, which was very marked in two patients. This fall in glomerular filtration may, however, simply reflect the natural course of the disease.

Adolescent↗