No abstract

Following the diagnosis of primary vesicoureteric reflux, identified as part of the investigation of urinary tract infection, 299 refluxing kidneys in 202 children (aged 0-14 years) were prospectively evaluated using intravenous urography (IVU) and the DMSA renal scan at least 4 weeks after urine infection. There was 88% concordance between IVU and the DMSA scan, but in 12% there were discrepancies manifested in 37 kidneys from 31 children. Thirty-four kidneys were normal on IVU but showed scars of reflux nephropathy (RN) on the technetium 99m--dimercaptosuccinic acid (DMSA) renal scan; 4 of these (2 infants and 2 pre-school children) had severe generalized changes on scanning. Three kidneys were normal of DMSA scan and, although abnormal on initial IVU, were considered to be normal when this was repeated. During a follow-up period of 5 years an annual DMSA was undertaken in 194 patients and the renal scars remained unchanged in all except 1 child. The IVU was repeated 1-3 years after the initial study in 31 children in which the results of the first imaging did not agree. In 28 patients (34 kidneys) in which the initial IVU was normal but the DMSA abnormal, IVU evidence of scarring emerged in 30 of 34 kidneys, including the 4 patients with severe generalized damage on the DMSA. We conclude that abnormalities detected by the DMSA scan may precede the radiological findings, especially in young children. Even severe RN can be established in kidneys that appear normal on the IVU.

The dimercaptosuccinic acid (DMSA) renal scan is a method for assessing kidney function. Indications for DMSA scanning in children with urinary tract infection (UTI), as well as timing, have changed. Pitfalls in interpreting DMSA scans include: (1) acute pyelonephritis (APN), (2) tubular dysfunction, (3) hypertension, (4) use of captopril in patients with renovascular hypertension and (5) duplex kidneys. Interpretation of DMSA scans in children with UTI vary according to timing and clinical setting. During the course of a febrile UTI a DMSA scan may reveal a normal kidney, APN or a non-functioning, small and/or ectopic kidney. In the absence of UTI (up to 6 months) in children with vesicoureteric reflux a DMSA scan may indicate a normal kidney, renal scarring (reflux nephropathy), occult duplex kidney and allows the progression of scarring and hypertrophy of normal areas of the kidney to be followed anatomically. The DMSA renal scan in now the most reliable test for the diagnosis of APN. The transient abnormalities due to APN can occur in normal or scarred kidneys. Lesions due to reflux nephropathy (defined as a defect in the renal outline or contraction of the whole kidney) are permanent. Intravenous urography reveals renal abnormalities later than the DMSA scan. If abnormalities are seen on a DMSA scan performed during the course of APN it is impossible to predict the outcome: they can progress to permanent scarring or heal completely. An abnormal DMSA scan during a febrile UTI allows the identification of children at risk of developing renal scars. These children should be carefully investigated, maintained on long-term quimioprophylaxis and followed.

Objective: To investigate the difference in the proportion of adolescents with metabolic syndrome diagnosed based on three different criteria, as well as the use of insulin resistance instead of fasting glucose.

Background/Aims: Dent’s disease is caused by mutations in the chloride/proton antiporter, CLC-5, or oculo-cerebro-renal-syndrome-of-Lowe (OCRL1) genes. Methods: Eighteen probands with Dent’s disease were investigated for mutations in CLC-5 and two of its interacting proteins, CLC-4 and cofilin. Wild-type and mutant CLC-5s were assessed in kidney cells. Urinary calcium excretion following an oral calcium challenge was studied in one family. Results: Seven different CLC-5 mutations consisting of two nonsense mutations (Arg347Stop and Arg718Stop), two missense mutations (Ser244Leu and Arg516Trp), one intron 3 donor splice site mutation, one deletion-insertion (nt930delTCinsA) and an in-frame deletion (523delVal) were identified in 8 patients. In the remaining 10 patients, DNA sequence abnormalities were not detected in the coding regions of CLC-4 or cofilin, and were independently excluded for OCRL1. Patients with CLC-5 mutations were phenotypically similar to those without. The donor splice site CLC-5 mutation resulted in exon 3 skipping. Electrophysiology demonstrated that the 523delVal CLC-5 mutation abolished CLC-5-mediated chloride conductance. Sixty percent of women with the CLC-5 deletion-insertion had nephrolithiasis, although calcium excretion before and after oral calcium challenge was similar to that in unaffected females. Conclusions: Three novel CLC-5 mutations were identified, and mutations in OCRL1, CLC-4 and cofilin excluded in causing Dent’s disease in this patient cohort.