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Biomedical subjects

M J Kemper

Publications and source records attributed to M J Kemper.

29 records · Page 2Linked to original sources
PubMed1997

Primary hyperoxaluria type 2.

UNLABELLED: Primary hyperoxaluria type 2 (PH2) is a rare disease with only 24 patients reported in the literature so far. It should be considered in any patient presenting with urolithiasis or nephrocalcinosis due to hyperoxaluria. The metabolic defect is deficiency of D-glycerate dehydrogenase/glyoxylate reductase leading to characteristic hyperoxaluria and excretion of L-glycerate, the cornerstone of diagnosis of PH 2. Although development of terminal renal failure seems to be less prevalent than in PH 1, recent reports indicate that chronic as well as terminal renal insufficiency may occur. Therefore specific therapeutic measures should aim at reduction of urinary calcium oxalate saturation by potassium citrate or pyrophosphate to reduce the incidence of nephrolithiasis and nephrocalcinosis and thus improve renal survival. Secondary complications (obstruction, urinary tract infections and pyelonephritis) must be avoided. In patients with terminal renal failure isolated renal transplantation seems to carry a high risk of disease recurrence. CONCLUSION: PH 2 is a rare but important cause of urolithiasis and nephrocalcinosis; long-term follow up is necessary, since the renal prognosis may be worse than previously anticipated.

Humans↗
PubMed1997

IgG2 deficiency in uremic children is not restricted to peritoneal dialysis treatment.

To date there are no data concerning IgG subclasses in children with preterminal chronic renal failure (CRF), although a reduction of total serum IgG, including its major subclasses IgG1 and IgG2, has been demonstrated in patients on peritoneal dialysis (PD). Therefore we studied total IgG, IgA, IgM, and IgG subclasses in preterminal CRF (n = 25), PD (n = 22) patients, and 13 age-matched healthy children and also compared results with age-related normal values previously established in 226 healthy children. While total IgG, IgA, IgM, and IgG 1 were comparable, there was a significant deficiency of IgG2 in children both with preterminal CRF and on PD compared with controls. Moreover, the prevalence of IgG2 deficiency compared with age-related normal values was significantly increased not only in PD but also in preterminal CRF patients. We conclude that there are alterations in serum IgG subclasses in children with CRF, with IgG2 deficiency not restricted to PD, but being present in the preterminal state as well.

Adolescent↗
PubMed1997

Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.

Diffuse leiomyomatosis (DL) with Alport syndrome (AS) has been shown to be associated with contiguous gene deletions of the COL4A5 and COL4A6 genes, with the COL4A6 breakpoint of the deletions invariably located in the large intron 2 of the gene. We describe four YAC clones covering the locus and a refined restriction map of the entire COL4A6 gene. These resources have allowed us to make a precise estimate of the size of COL4A6 introns 2 and 3, as well as the size of the gene itself. We also describe five novel deletions which, in conjunction with previous reports, allow the definition of a 90-kb critical region in which to search for a gene or other entity involved in the pathogenesis of DL.

Adult↗
PubMed1997

Disseminated islands of gastric mucosa in jejunum and ileum detected by technetium-99m-pertechnetate scintigraphy.

Disseminated islands of gastric mucosa are very rare in the small intestine. The secretion of hydrochloric acid can lead to ulceration which results in gastrointestinal bleeding. It is often difficult to localize the focus in case of gastrointestinal blood loss especially in the small bowel. Technetium-99m-pertechnetate scintigraphy may be a helpful tool in detecting ectopic gastric mucosa. We report a case of a 21-mo-old boy with recurrent gastrointestinal bleeding. By using pertechnetate scintigraphy, extensive tracer accumulation in the jejunum and proximal ileum was detected. Histologically, multiple islands of ectopic gastric mucosa were found in about 50 excited mucosal and transmural biopsies. The unusual finding of disseminated accumulation of 99mTc-pertechnetate in the small intestine was the diagnostic clue for such a rare disease.

Biopsy↗
PubMed1996

Effective treatment of acute hyperkalaemia in childhood by short-term infusion of salbutamol.

UNLABELLED: Hyperkalaemia is a life-threatening emergency and infusion of glucose with insulin has so far been regarded as the standard treatment of choice. Recently the beta-2 stimulatory drug salbutamol has been shown to be an effective agent to treat hyperkalaemia by inducing a shift of potassium into the intracellular compartment. We treated 15 children aged 0.1-14 (mean 5.2) years suffering from acute hyperkalaemia (mean level 6.6 +/- 0.54, range 5.9-7.7 mmol/l) with a single infusion of salbutamol (5 micrograms/kg over 15 min). Serum potassium concentrations decreased significantly within 30 min to levels of 5.74 +/- 0.53 and 4.92 +/- 0.53 mmol/l after 120 min (P < 0.001, respectively). No side-effects occurred other than a light increase in heart rate in 3 patients. CONCLUSION: A single intravenous infusion of salbutamol at a dose of 5 micrograms/kg is a highly effective treatment for hyperkalaemia with minimal clinical side-effects. The effect lasts for at least 120 min and may reverse hyperkalaemia in some patients without further interventions so that salbutamol seems justified as the first choice treatment for this condition in childhood.

Adolescent↗
PubMed1996

Nephrocalcinosis in a patient with primary hyperoxaluria type 2.

Although nephrocalcinosis is a classical finding in primary hyperoxaluria type 1 (PH 1) associated with a poor renal survival it is exceptional in patients with PH type 2 (PH 2), characterized by a more favorable outcome. We describe an 8-month-old girl who suffered from recurrent urinary tract infections. Imaging studies revealed a profound corticomedullary nephrocalcinosis with no evidence of calculi. Urinary oxalate and D-glycerate excretion were massively elevated, while urinary glycolate or glyoxylate could not be detected, confirming the diagnosis of PH 2. Although the nephrocalcinosis progressed radiologically, renal function remained stable for over 2 years. Only further follow-up will show whether the associated nephrocalcinosis worsens the prognosis of our patient and of PH 2 in general.

Child↗
PubMed1996

Hyperkalemia: therapeutic options in acute and chronic renal failure.

Hyperkalemia is a life threatening emergency and warrants immediate treatment because of its deleterious cardiac consequences. Initial measures in mild cases include restriction and binding of dietary potassium, correction of metabolic acidosis and increasing urinary excretion by furosemide. In moderate and severe hyperkalemia infusion of glucose with insulin has been regarded as the standard medical treatment so far. However, recently also the beta 2 stimulatory drug salbutamol has been shown to be an effective agent to treat hyperkalemia by inducing a shift of potassium into the intracellular compartment. We treated 15 pediatric patients of different age groups (mean age 5.16, range 0.1-16 years) suffering from acute hyperkalemia (mean level 6.6, range 5.9-7.7 mmol/l) by means of a single infusion of salbutamol (5 micrograms/kg over 15 minutes). Serum potassium concentrations decreased significantly to 5.74 +/- 0.53 after 30 minutes and furthermore to 5.19 +/- 0.48 and to 4.92 +/- 0.53 mmol/l after 60 and 120 minutes, respectively (p < 0.001 at all stages compared to pre-treatment). Since no side effects occurred besides a slight increase of heart rate in 3 patients, we conclude that short-term intravenous salbutamol infusion is an effective, rapid, safe and predictable way to treat children of any age suffering from acute hyperkalemia and therefore has become the first line treatment in our center.

Acute Disease↗
PubMed1975

Adam Politzer, otology and the Centennial Exhibition of 1876.

The Centennial Exhibition of 1876 was held in Philadelphia. Among the exhibits was a collection of temporal bone dissections produced by Adam Politzer of Vienna. This exhibit included both normal and pathological temporal bones, and emphasized the relationship of the tympanic membrane to the middle ear, external canal and bony labyrinth. At the close of the Centennial Exhibition the collection was purchased by the College of Physicians of Philadelphia. This collection and the congress associated with the Centennial had a tangible effect on the otology in this country.

Ear Canal↗
PubMedDate not supplied

[Bilharziasis as the etiology in hematuria and proteinuria in childhood].

Haematuria and proteinuria are important symptoms of primary and secondary nephropathies. We report three african children presenting to our center in whom infection with S. haematobium resulted in haematuria and proteinuria. The third patient concomitantly suffered from steroid-sensitive relapsing nephrotic syndrome with the histological features of focal and segmental glomerulo-sclerosis. The diagnosis was in all cases established by light microscopy and urinary symptoms improved after treatment with praziquantel. In the third patients long term remission of the nephrotic syndrome could be maintained after 4 doses of praziquantel for recurrent bladder symptoms. We conclude that bilharziosis must be considered in the differential diagnosis of children with haeamturia and proteinuria even in Europe. The diagnosis can be established easily by light microscopy and an effective and low-risk treatment (with Praziquantel) can be offered.

Adolescent↗
PubMedDate not supplied

Preemptive liver transplantation in primary hyperoxaluria type 1: timing and preliminary results.

Preemptive isolated liver transplantation (PLTX) can cure the metabolic defect in primary hyperoxaluria type 1 (PH1) but there are no uniformally accepted recommendations concerning the timing of this transplantation procedure. We have performed PLTX successfully in 4 children (age 3-9 years) with PH1 with no mortality or morbidity due to the transplantation procedure. Plasma and urinary oxalate levels normalised rapidly and renal function remained stable including one patient with advanced chronic renal failure who showed a stable course for more than 24 months. Although treatment must be individualised in this severe metabolic disorder and PLTX has to be viewed as invasive procedure, we feel PLTX should be offered and discussed not too late in the treatment of PH1 to prevent or at least delay the progression to end stage renal disease and systemic oxalosis.

Child↗