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Biomedical subjects

W Proesmans

Publications and source records attributed to W Proesmans.

At least 73 records · Page 4Linked to original sources
PubMed1994

Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.

Mutations in the X-chromosomal V2 receptor gene are known to cause nephrogenic diabetes insipidus (NDI). Besides the X-linked form, an autosomal mode of inheritance has been described. Recently, mutations in the autosomal gene coding for water-channel aquaporin 2 (AQP2) of the renal collecting duct were reported in an NDI patient. In the present study, missense mutations and a single nucleotide deletion in the aquaporin 2 gene of three NDI patients from consanguineous matings are described. Expression studies in Xenopus oocytes showed that the missense AQP2 proteins are nonfunctional. These results prove that mutations in the AQP2 gene cause autosomal recessive NDI.

Amino Acid Sequence↗
PubMed1992

Reversible hypophosphatemic rickets following ifosfamide treatment.

A 7-year-old boy developed renal tubular dysfunction and hypophosphatemic rickets following treatment for relapsed embryonal rhabdomyosarcoma. Multi-agent chemotherapy included ifosfamide; the child received a total of 108 g/m2. The complete Fanconi syndrome which ensued, including excessive loss of calcium, resolved spontaneously and progressively 18 months after the last dose of ifosfamide. The patient had no further symptoms of rickets and radiological signs had almost completely normalized. Further follow-up was not possible as, despite further treatment, the child died of progressive disease.

Abdominal Neoplasms↗
PubMed1991

Specific eye fundus lesions in type II membranoproliferative glomerulonephritis.

In three adolescents, suffering from membrano-proliferative glomerulonephritis type II, ophthalmoscopy and fluorescein angiography revealed retinal pigment epithelium lesions, referred to as basal laminar drusen. The patient with the longest renal history had the most pronounced fundus changes. These lesions, earlier described in adult patients, are believed to be specific for this particular form of chronic glomerulonephritis.

Adolescent↗
PubMed1991

Autosomal recessive chronic granulomatous disease associated with 18q-syndrome and end-stage renal failure due to Henoch-Schönlein nephritis.

Chronic granulomatous disease (CGD) is an inherited disorder in which phagocytes, including polymorphonuclear neutrophils, are unable to generate oxygen-derived microbicidal compounds, among them superoxide. Two main types of CGD are known, an X-linked form which is normally associated with the absence of cytochrome b558, a component of the membrane-associated reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase which generates superoxide and an autosomal recessive form, in which cytochrome b558 is present, caused by the deficiency of a cytosolic factor required to activate NADPH oxidase. Patients with the X-linked type are highly susceptible to infections; those with the autosomal recessive form may be less severely affected. We report the unusual association of autosomal CGD with 18q--syndrome in a girl who developed terminal renal insufficiency caused by Henoch-Schönlein nephritis, and speculate on the possibility that the gene defect of autosomal recessive CGD may be located on chromosome 18.

Chromosome Aberrations↗
PubMed1991

Heterogeneity of growth of bone in children at the spine, radius and total skeleton.

Bone mineral content (BMC), density (BMD), and size were measured in 202 subjects ranging from 3 to 25 years of age (106 males and 96 females), half of which were children and half young adults. BMC and BMD were measured using single photon absorptiometry at the proximal and distal radius and dual photon absorptiometry at the lumbar spine and the total body. In the pre-pubertal age group (3-9 yrs), no differences were found in BMC nor BMD between males and females at any site. Growth of bone during puberty was characterized by an increase in BMC, bone size and BMD. The percent increase in BMC was greater at the lumbar spine and the total body (+200 to +390 %) than at the radius (+90 to +270 %). The increase in BMC was higher than the increase in BMD (+50 to +90 %). Overall bone growth in the total body was not reflected by changes in BMC of the appendicular skeleton. The increase in BMD was heterogeneous and was higher in the legs than in the arms. In males, the increase in BMC and size during growth was greater than in females resulting in a higher peak bone mass and size in males. The increase in BMD was similar between males and females at the distal radius, the lumbar spine and the total body, but higher at the proximal radius, the arms and the legs in males.(ABSTRACT TRUNCATED AT 250 WORDS)

Absorptiometry, Photon↗
PubMed1990

Recombinant human erythropoietin increases blood pressure, platelet aggregability and platelet free calcium mobilisation in uraemic children: a possible link?

Recombinant human erythropoietin was administered to 10 uraemic children on chronic haemodialysis, all of whom responded by correcting their haemoglobin. In addition, they showed an increase in blood pressure; platelet aggregations, subnormal before therapy, improved during treatment. The intracellular free calcium concentration in platelets after thrombin stimulation also increased significantly during erythropoietin administration. We hypothesize that the effect of erythropoietin on platelet aggregability and on blood pressure may be due to an increase in the intracellular free calcium mobilisation in platelets and possibly in smooth muscle cells respectively.

Adolescent↗
PubMed1990

Recombinant human growth hormone treatment in short children with chronic renal disease, before transplantation or with functioning renal transplants: an interim report on five European studies.

Growth retardation is common in children with chronic renal disease. Final adult height is often reduced, even in children with a functioning renal transplant. The five European studies considered here aim to investigate the efficacy and safety of recombinant human growth hormone therapy (rhGH) in two groups of short children with chronic renal disease. The first group comprises 29 prepubertal children with preterminal chronic renal failure (i.e. before renal transplantation), and the second group comprises 39 prepubertal and pubertal children with functioning renal transplants. The median bone age retardation in the groups at the start of treatment was between 2.2 and 3.7 years; this did not change during the first year of treatment. This interim report concentrates on patients who have been treated for at least 1 year (i.e. 22 children from the first group, and 28 children from the transplant group (15 prepubertal and 13 pubertal children). The median height velocity increased from 4.8 cm/year to 10.0 cm/year in the first group (the chronic renal failure group), from 2.6 cm/year to 6.2 cm/year in prepubertal children with renal transplants and from 3.8 cm/year to 6.7 cm/year in pubertal children with renal transplants. The corresponding changes in height velocity SDS were from -1.3 to 5.1 for the chronic renal failure group and -2.8 to 2.3 for the prepubertal children with renal transplants. Renal function declined in the chronic renal failure group but this decline corresponded to expected progression of the disease. Some of the children with renal transplants showed a decreased renal function, which in most cases was explained by non-compliance or chronic rejection.

Adolescent↗
PubMed1990

Renal transplantation in 20 children with hemolytic-uremic syndrome.

In this study the outcome of kidney transplantation in 20 patients with end-stage renal disease (ESRD) due to the hemolytic uremic syndrome (HUS) was evaluated. The characteristics and severity of the primary disease in these patients were not different from those commonly reported in patients with HUS. Eleven children developed ESRD immediately following HUS, in nine others temporary partial recovery of kidney function for 0.5-13.2 years was observed. Twenty-four grafts were transplanted in these 20 patients. Graft survival was no different from overall cadaver graft survival. In nine patients failure of the first kidney graft occurred, while the four second grafts were still functioning at the time of writing. Recurrence of HUS was suspected but not proven to be the cause of first graft failure in two patients, and impaired graft function in a third one. A short interval between HUS and kidney transplantation seems to adversely affect graft survival. No other factors influencing outcome of transplantation could be detected.

Child↗
PubMed1989

Rickets due to dietary calcium deficiency.

Three children, aged 15-18 months were referred because of clinical, radiological and biochemical manifestations of rickets. Serum 25-hydroxycholecalciferol (25-OH-D3) values were within the normal range but 1,25-dihydroxychole-calciferol (1,25-diOH-D3) levels were markedly elevated. All signs and symptoms could be explained by dietary calcium deficiency. They all received the commercial Soya-drink - not adapted for infants - as their main source of nutrition for at least 6 months. Soya-drink has an extremely low calcium content. It should be remembered that defective calcium intake causes severe bone lesions and rickets in children in spite of adequate vitamin D supply.

Calcitriol↗