Aims-To ascertain the outcome associated with antenatal renal pelvis dilatation; to recommend guidelines for postnatal investigation and determine an upper limit of normal for the anterioposterior dimensions of the fetal renal pelvis. Methods-Infants whose antenatal ultrasound scan showed a fetal renal pelvis of 5 mm or greater were investigated using postnatal renal tract ultrasound and a micturating cystogram. Isotope studies were also performed, where appropriate. Results-Vesicoureteric reflux (VUR), the most common diagnosis, was evident in 23/104 (22%). In 14 infants with VUR the postnatal ultrasound scan was normal. There was no evidence of renal scarring or dysplasia in any of the refluxing kidneys. Other diagnoses were pelviureteric junction obstruction, renal dysplasia, and idiopathic dilatation. Antenatal counselling and parental information facilitated postnatal assessment. Conclusions-Infants with antenatal renal pelvis measurements of 5 mm or greater should be investigated postnatally, as a significant percentage will have VUR. A normal postnatal ultrasound scan does not preclude the presence of VUR. (Arch Dis Child Fetal Neonatal Ed 1999;80:F135-F138)
Summary
Forty‐seven patients with thalassaemia have been studied to define risk factors for development of sensorineural hearing loss, and to establish guidelines for safe chelation. Sensorineural hearing loss was only present in patients who had previously received desferrioxamine (DFO). The two most significant risk factors were the maximum dose of DFO previously received (P < 0.01), and a serum ferritin of < 2000 μg/1 at that time (P < 0.001). A therapeutic index obtained from the ratio of the mean daily dose of DFO mg/kg divided by the serum ferritin identifies patients with a ratio of > 0.025 as at risk of sensorineural hearing loss (P < 0.001) and can be used as a guideline for safe DFO dosage. Follow‐up audiometry of the affected patients over a 2‐year period indicated that adjustment of the dose to a therapeutic index of < 0.025 resulted in the stabilization of hearing loss in seven patients and improvement in two.
Urinary tract infection is a commonly occurring paediatric infection associated with significant morbidity. Diagnosis is challenging as symptoms are non-specific and definitive diagnosis requires an uncontaminated urine sample to be obtained. Common techniques for sampling in non-toilet-trained children include clean catch, bag, pad, in-out catheterisation and suprapubic aspiration. The pros and cons of each method are examined in detail in this review. They differ significantly in frequency of use, contamination rates and acceptability to parents and clinicians. National guidance of which to use differs significantly internationally. No method is clearly superior. For non-invasive testing, clean catch sampling has a lower likelihood of contamination and can be made more efficient through stimulation of voiding in younger children. In invasive testing, suprapubic aspiration gives a lower likelihood of contamination, a high success rate and a low complication rate, but is considered painful and is not preferred by parents. Urine dipstick testing is validated for ruling in or out UTI provided that leucocyte esterase (LE) and nitrite testing are used in combination.
Infantile hypertrophic pyloric stenosis (IHPS) is the most common inherited form of gastrointestinal obstruction in infancy. The disease is considered a paradigm for the sex-modified model of multifactorial inheritance and affects males four times more frequently than females. However, extended pedigrees consistent with autosomal dominant inheritance have been documented. We have analysed data from an extended IHPS family including eight affected individuals (five males and three females) and mapped the disease locus to chromosome 16q24 (LOD score ¼ 3.7) through an SNP-based genome wide scan. Fourteen additional multiplex pedigrees did not show evidence of linkage to this region, indicating locus heterogeneity.
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