Biomedical subjects

Sally-Anne Hulton

Publications and source records attributed to Sally-Anne Hulton.

5 recordsLinked to original sources

PubMed2004

Prognosis, treatment and outcome of childhood mesangiocapillary (membranoproliferative) glomerulonephritis.

BACKGROUND: Prognostic factors and outcome are incompletely known in childhood mesangiocapillary glomerulonephritis (MCGN). This study aimed to correlate renal outcome with clinical and histopathological variables. METHODS: We conducted a two-centre retrospective analysis of children with MCGN. RESULTS: Fifty-three children presented at a mean age of 8.8 years (range: 13 months-15 years). They were followed for a median of 3.5 years (range: 0-17 years). Histological classification identified 31 type 1, 14 type 2, two type 3 and six undetermined type. Mean renal survival [time to end-stage renal failure (ESRF)] was projected to be 12.2 years [confidence interval (CI): 9.7-14.6 years]. Five and 10 year renal survival was 92% (CI: 88-100%) and 83% (CI: 74-92%), respectively. Those with nephrotic syndrome at presentation had mean renal survival of 8.9 years (CI: 7.1-10.7 years) vs 13.6 years for those without (CI: 10.8-16.5 years) (P = 0.047). The mean estimated glomerular filtration rate (eGFR) at 1 year in those who progressed to ESRF was 52 vs 98 ml/min/1.73 m2 in those who did not (P < 0.001). Chronic damage scored on the first biopsy in 31 children (one centre) was positively associated with adverse renal outcome at 5 years: <20% was associated with 100% and > or =20% with 71% 5-year renal survival (P = 0.006). In 29 children treated with steroid there was a higher proportion (76%) with reduced eGFR at presentation and a significantly higher incidence of nephrotic syndrome (P = 0.002) and hypertension (P = 0.037). There were no significant differences in outcome eGFR, hypertension or proteinuria. CONCLUSIONS: Nephrotic syndrome at presentation and subnormal eGFR at 1 year were adverse features. The finding that structural disease at onset predicted poor renal outcome at 5 years has implications for the design of therapeutic trials. Treatment of MCGN was variable and not evidence-based.

Adolescent↗

PubMed2004

Urinary L-lactate excretion is increased in renal Fanconi syndrome.

BACKGROUND: Measurement of l-lactate in body fluids is an established clinical tool to identify disorders of cellular respiration. However, there is very little known about the clinical value of urinary lactate measurements. We investigated urinary lactate excretion in children with renal Fanconi syndrome. METHODS: Freshly voided urine samples were obtained from children with Fanconi syndrome and controls both with and without renal disease. Urine lactate was estimated by conversion to pyruvate in the presence of lactate dehydrogenase and NAD. The NADH produced was measured photometrically. Urine lactate was factored for urine creatinine. RESULTS: Children with Fanconi syndrome had a significantly higher urine lactate/creatinine ratio [mean: 84 x 10(-2) mmol/mmol; 95% confidence interval (CI): 40.8-127.1 x 10(-2) mmol/mmol] than healthy controls (mean: 1.3 x 10(-2) mmol/mmol; CI: 1.1-1.5 x 10(-2) mmol/ mmol) and those with a variety of renal diseases (mean: 3.1 x 10(-2) mmol/mmol; CI: 1.8-4.5 x 10(-2) mmol/mmol). CONCLUSIONS: Urinary lactate is increased in Fanconi syndrome. The increase is likely to be due to reduced lactate co-transport in the proximal tubule. Urinary lactate/creatinine has clinical utility as a sensitive test of disordered proximal renal tubular function.

Adolescent↗

PubMed2004

Increasing the use of orphan drugs in clinical practice.

Orphan drugs allow people with rare disease to access well-tolerated, safely formulated and effective drugs. Over the next few years, orphan drugs will probably be increasingly adopted into everyday clinical practice, partly because of genomic stratification.

Chemistry, Pharmaceutical↗

PubMed2003

Lip hypertrophy secondary to cyclosporin treatment.

Gingival hypertrophy is a well-documented side effect of cyclosporin therapy, but severe lip enlargement is less frequently recognised. This can lead to poor body image, low self-esteem and non-compliance, especially in the older childhood and adolescent age groups. We describe two paediatric renal transplant recipients who had marked lip hypertrophy as a consequence of cyclosporin (Neoral) treatment. On changing the immunosuppression to tacrolimus (Prograf), this resolved. We recommend that a change in immunosuppressant therapy be considered in children with significant changes to facial appearance.

Child↗

PubMed2002

Primary hyperoxaluria type 2 in children.

The primary hyperoxalurias (PH1 and PH2) are rare defects of oxalate overproduction. There are only 24 reported cases of PH2, which is characterized by raised urine oxalate and L-glycerate. We describe 13 previously unreported children with PH2, representing the largest single-centre cohort in the world. DNA samples were tested for a common mutation and four other documented mutations in the gene encoding the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). Two of the five kindred showed homozygosity for two different mutations in the GRHPR gene. The genetic defect was not identified in the other three families. The median age at diagnosis of PH2 was 1.7 years. Five children presented with nephrolithiasis between 0.8 and 9 years. Haematuria was common, but urinary tract infection and nephrocalcinosis were not. All had normal renal function at diagnosis, and only 1 patient had a significant decline in glomerular filtration rate. We conclude that all children with nephrolithiasis secondary to hyperoxaluria should have urinary glycerate measured, as PH2 may be more prevalent than currently estimated. DNA mutational analysis may be useful in supporting the diagnosis.

Adolescent↗