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Biomedical subjects

J Wiggelinkhuizen

Publications and source records attributed to J Wiggelinkhuizen.

At least 19 recordsLinked to original sources
PubMed1992

The Lesch-Nyhan syndrome--an under-recognised condition in South Africa? A case report.

The Lesch-Nyhan syndrome is a rare inborn error of purine metabolism caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which results in mental retardation with characteristic self-mutilation, spasticity, extrapyramidal signs and hyperuricaemia. The clinical and biochemical findings in an 18-month-old boy, who presented with renal calculi and was shown to have less than 1% of normal HGPRT activity, are reported. The obvious neurological abnormalities had previously been thought to be due to hypoxic-ischaemic encephalopathy. The expected incidence of this disease is much higher than the known number of cases diagnosed.

Athetosis↗
PubMed1989

Renal venous thrombosis in infancy.

Renal venous thrombosis (RVT) in infancy occurs in situations associated with reduced renal blood flow and hypercoagulability. The clinical diagnosis is based on finding enlarged kidney(s), haematuria and thrombocytopenia in a setting where the infant is at risk of RVT. Ultrasonography is the imaging modality of choice and should replace the more invasive excretory urography and venography for confirmation of the diagnosis. Impairment of renal function is best documented by radionuclide studies. Treatment is supportive with heparinisation for severe bilateral RVT and inferior vena cava thrombosis. The role of thrombectomy and fibrinolytic therapy is limited in infancy. Survival rates have much improved in recent years. Severe venous infarction leads to atrophy of the affected kidney, which may later be mistaken for congenital renal hypoplasia. RVT may be complicated by hyperreninaemic hypertension, which is curable by nephrectomy.

Humans↗
PubMed1988

Dipstick screening for urinary tract infection.

In screening for urinary tract infection the leucocyte esterase test will detect almost all samples with significant pyuria and bacteriuria, but is relatively nonspecific. The nitrite test is more specific but less sensitive and about one-third of the urinary tract infections in a large group of children were missed. The combination of screening tests results in greater overall accuracy both in the diagnosis and exclusion of urinary tract infection. Almost all cases of urinary tract infection were detected when either the leucocyte esterase or the nitrite screening test or both were positive. If both tests are negative, urinary tract infection is virtually excluded and unless the child is symptomatic, further urinalysis is unnecessary. Laboratory urinalysis is, however, necessary if any one screening test for leucocyte esterase or nitrite (or protein or haemoglobin) is positive. Combined biochemical screening for urinary tract infection with dipstick test strips is reliable and allows early diagnosis and management. By avoiding unnecessary urinalysis it is cost-effective for the patient and will significantly reduce the laboratory workload.

Adolescent↗
PubMed1987

Membranous glomerulonephropathy in childhood.

Membranous glomerulonephropathy (MGN) in South African black and mixed race children with the nephrotic syndrome is much commoner than in First-World countries. In this survey of 388 nephrotic children MGN was found in 51.9% of black and 20.9% of mixed race boys, and 25% of black and 5.6% of mixed race girls respectively, but was not present in 53 white and Asiatic nephrotic children. Aetiological or associated factors were documented in 84%: hepatitis B virus infection in 73%, congenital syphilis in 6% and systemic lupus erythematosus, D-penicillamine toxicity and Salmonella infective endocarditis in 1 case each. The prognosis depends on the cause and is much better than for adults with idiopathic MGN. After an average follow-up period of 4.5 years the overall remission rate was 78% and mean time to remission 30 months. One patient with syphilitic MGN died 15 years later; 3 patients are in mild renal failure. Corticosteroids and other immuno-suppressive therapy were ineffective and may do harm. The frequent occurrence of MGN is related to the high prevalence of predisposing infections in the affected population groups, and socio-economic rather than ethnic factors are important.

Black People↗
PubMed1986

Calculation of glomerular filtration rate in infants and children. The use of one- and two-compartment models.

Radiopharmaceuticals such as chromium-51-ethylenediamine tetra-acetic acid and technetium-99m-diethylenetriamine penta-acetic acid are often used to measure glomerular filtration rate. Some assumptions are inherent in the method while others are made to simplify the procedure. The assumption of a one-compartment model falls into the latter group and is an important cause of misleading results.

Adolescent↗
PubMed1979

Chlorambucil therapy in childhood nephrotic syndrome.

Chlorambucil (Leukeran), a cytotoxic agent, was administered to 13 children with the nephrotic syndrome who had responded to steroid therapy, but frequently relapsed. In all patients corticosteroid therapy had become unsatisfactory. Eleven patients have so far remained in remission for an average follow-up period of 31 months since chlorambucil therapy. No side-effects of therapy were observed in this study, but several grave complications of high-dosage therapy have been reported in the recent literature. A dose of 0.2 mg/kg/d for 8 weeks should not be exceeded.

Adolescent↗
PubMed1979

The nephrotic syndrome in families.

Six families, each with 2 siblings suffering from the nephrotic syndrome, are reported. The incidence, causes, clinical picture and management of the nephrotic syndrome occurring in families are discussed, as well as possible ways of preventing this syndrome.

Child↗
PubMed1979

Dissolution of bilateral staghorn cystine renal calculi.

Bilateral staghorn renal calculi in a 7-year-old girl with cystinuria were dissolved over a period of 6 months, using a high fluid intake, urinary alkalinisation, and D-penicillamine. Even in children with extensive cystine urolithiasis, medical management may avert the need for surgery.

Child↗
PubMed1978

Takayasu arteritis and renovascular hypertension in childhood.

Takayasu arteritis with renal artery involvement was the cause of severe persistent hypertension in eight children under 12 years of age. Features of severe hypertension dominated the clinical picture. Unequal or absent pulses were found in three patients. An irregular contour of the descending thoracic aorta on the chest roentgenogram was an early clue to the diagnosis. On aortography both renal arteries were affected in five patients, although a discrepancy in kidney size on excretory urography had suggested a unilateral lesion. Total aortography is mandatory to outline the full extent of the vascular abnormalities. All the patients had strongly positive tuberculin skin tests, and, although mycobacteria were not isolated, all patients received antituberculous as well as antihypertensive therapy. Nephrectomy of the worse kidney is contraindicated if the renal arteries are asymmetrically involved, for fear of later extension of the arteritis. Takayasu arteritis is an important cause of severe persistent hypertension in nonwhite children.

Aorta, Abdominal↗
PubMed1977

Familial vesico-ureteral reflux.

Four families of which 2 or more members were affected with primary vesico-ureteral reflux are reported. A multifactorial inheritance pattern subject to environmental factors is likely. Early examination and detection of the disorder in relatives at risk provide an opportunity to avoid the serious sequelae of vesico-ureteral reflux.

Child↗
PubMed1976

Alpha fetoprotein in the antenatal diagnosis of the congenital nephrotic syndrome.

In the congenital nephrotic syndrome (Finnish type), concentrations of alpha fetoprotein in the amniotic fluid and maternal serum are markedly elevated in the second trimester of pregancncy. Demonstration of this alteration allows early prenatal diagnosis of this fatal condition and elective termination of the pregnancy before 20 week's gestation.

Adult↗