Four hour voiding observation study in infants with posterior urethral valves.

INTRODUCTION AND AIM: Posterior urethral valves (PUV) are often associated with bladder dysfunction. Our primary aim was to investigate bladder status following primary valves resection to gather evidence of function and to guide early clinical management. PATIENTS AND METHODS: Between July 2015-2020, we prospectively evaluated bladder function of PUV infants. Primary outcomes measured were number of voids, voided volume (VV), post-void residual (PVR) and bladder capacity (BC). Statistical comparisons and descriptive analysis were carried out between groups using 2-tails T test and Chi square test using an IBM SPSS Statistics program version 25. RESULTS: Sixty-one infants were included. Median age at resection was 28 days (5 days-11 months). In thirty-eight patients (62%) diagnosis was suspected antenatally. Vesico-ureteric reflux (VUR) was present in 16 (26%). The 4-h observational study was performed at median 4 days following primary cold-knife valve resection and 1 day (range from 1 to 12 days) after catheter removal. Infants voided an average 6 times (2-13 voids). Bladder capacity was large in 20 (33%) and small in 4 (6.5%) patients with a median ratio BC/eBC = 1.2 (0.49-22.6). Median residual urine was 9 mls but with great variability among the cohort (0-121 mls). A big variability in bladder emptying was noted between patients and between voids performed in one patient. In 13 infants (21%) average PVR was larger than the average voided volume. In 26 (42.6%) PVR was larger than VV at least once. Thirty-eight infants (62.3%) emptied their bladders almost completely at least once (with PVR <5 mls). No difference was found in PVR, Median BC/EBC and PVR/BC between infants with and without VUR (p = 0.654, P: 0.594 and p = 00.481, respectively). DISCUSSION: We presented our experience of non-invasive bladder function assessment in infants affected by PUV following primary valve resection. An interesting data is the great variability identified both between patients and between voids performed in a single patient. Average number of voids was similar to the voiding pattern in healthy newborns what reported by Gladh but variability was greater. We observed up to 13 voids in some infants and we can speculate this could reflect the presence of an overactive bladder. We observed at least 1 complete emptying in only 62% of infants and 21% of the cohort had PVR bigger than VV. In almost half of the infants (42.6%) PVR was larger than VV at least once. CONCLUSIONS: Around 40% of infants affected by PUV have abnormal bladder capacity and almost half of them have significant post void residuals following primary resection. Although controversies and limitations are present, we believe that this non-invasive study can provide valuable information to understand the dynamic of the bladder, particularly in children affected by PUV and allow early intervention in children considered "at risk". Having a non invasive way of assessing can help tailor intervention and be useful for future research into early bladder intervention and improving outcomes.

A consensus process to identify research priorities in paediatric urology in the United Kingdom.

INTRODUCTION: Paediatric urologists manage a spectrum of conditions, much of the evidence for relevant treatment pathways is of low quality. For many conditions treatment varies according to location and surgeon; children with the same condition might have surgery in one unit but watchful waiting in another. Underlying this variation are differences in opinion, and insufficient high-level evidence with few prospective randomized studies. Such studies may be challenging to design, fund and recruit into, and are more likely to succeed if there is a collaborative approach. Research prioritization is a tool to identify the research of most value. Delphi methodology is an interpretive technique aiming to gain the consensus view of interested parties. The British Association of Paediatric Urologists (BAPU) set out to ascertain consensus on what paediatric urologists, working in the UK, consider to be areas of priority for research. This paper describes the process used, and the resulting list of research questions. METHODS: A scoping survey of paediatric urologists in the UK was undertaken to identify an initial set of research questions. These were refined by the BAPU research committee (BAPU RC), then prioritized using a modified Delphi process. During Stage 1a multiple new research questions were submitted leading to Stage 1b, an interim process. All UK paediatric urologists were invited to take part in Stage 2 of the prioritization process. RESULTS: Sixty-five questions were submitted to the scoping survey by 24 paediatric urologists. The BAPU RC refined these to 60 questions, which were submitted to Stage 1a of the modified Delphi process. Sixty-seven people completed Stage 1a, at the same time submitting 224 additional research questions. The BAPU RC revised the entire question set, ensuring the key subject of the original question was not altered and novel questions were retained. The BAPU RC undertook interim scoring of the resultant 79 questions, the top scoring 25 questions plus 5 lower scoring 'wild card' questions (to ensure the breadth of the specialty was represented) were put forward to Stage 2. A total of 65 people completed Stage 2, including a lay representative. A list of 30 priority research questions was generated; the top 10 includes management of neuropathic bladder, posterior urethral valves, antibiotic prophylaxis, DSD & CAH, continence, male external genitalia, VUR and transition care (Table). CONCLUSION: This process has provided BAPU, paediatric urologists in the UK, and funders with areas of research considered a priority in the specialty.

Posterior Urethral Valves, Unilateral Vesicoureteral Reflux, and Renal Dysplasia (VURD) Syndrome: Long-Term Longitudinal Evaluation of the Kidney Function.

The presence of unilateral vesicoureteral reflux (VUR), and renal dysplasia associated with posterior urethral valves (PUV) (VURD syndrome) was believed to represent a pressure-released pop-off mechanism protecting kidney function. We aimed to investigate its role with respect to long-term kidney function in a cross-sectional and longitudinal analysis. We compared the iohexol glomerular filtration rate (GFR) measured at 5 (GFR5) and 10 (GFR10) years of age in children with (Group A) and without (Group B) VURD syndrome, who underwent PUV resection under 2 years of age. VURD syndrome was diagnosed in cases of unilateral loss of kidney function (<15% on nuclear medicine test) associated with ipsilateral grade IV-V VUR. VURD syndrome was diagnosed in 16 (12.8%) out of 125 patients who met the inclusion criteria. While the median GFR5 was similar in the 2 groups [Group A: 87.3 (74.7-101.2) mL/min/1.73 m2 vs. Group B: 99.6 (77-113) mL/min/1.73 m2, p-value: 0.181], the median GFR10 values were significantly lower in children with VURD syndrome [Group A: 75.7 (71.2-85.9) mL/min/1.73 m2 vs. Group B: 95.1 (81.2-114.2) mL/min/1.73 m2, p-value: 0.009]. Similar results were obtained in a longitudinal analysis of the children with GFR measurement available both at 5 and 10 years of age [GFR5 in Group A: 93.1 (76.9-103.5) mL/min/1.73 m2 vs. Group B: 97.5 (80-113) mL/min/1.73 m2, p-value: 0.460; GFR10: Group A: 71.9 (71.9-85.9) mL/min/1.73 m2 vs. Group B: 94.8 (81.5-110.6) mL/min/1.73 m2, p-value: 0.024]. In conclusion, VURD syndrome does not show a protective role in kidney function preservation. On the contrary, it seems to be associated with a deterioration of the kidney function on a long-term follow-up.

Morbidity following suprapubic line insertion for videourodynamics in children.

INTRODUCTION: Previously in our unit, urodynamics were delayed after insertion of suprapubic (SP) lines. We postulated that performing urodynamics on the same day as SP line insertion would not result in increased morbidity. We retrospectively compared complications in those having urodynamics on the same day against those who had delayed urodynamics. PATIENTS AND METHODS: Notes were reviewed for patients undergoing urodynamics via SP lines from May 2009 until December 2018. In 2014 we modified our practice to allow urodynamics on the same day as SP line insertion in some patients. Patients undergoing videourodynamics would have two 5 Fr (mini Paed) SP lines inserted under general anaesthesia. Patients were divided into two groups: those that had urodynamics on the same day as SP line insertion and those that had urodynamics after an interval of more than one day. The outcome measure was the number of problems affecting those in each group. The two groups were compared using Mann-Whitney U tests and Fisher's Exact tests. RESULTS: There were a total of 211 patients with a median age of 6.5 years (range three months to 15.9 years). Urodynamics were performed on the same day in 86. Delayed Urodynamics were performed at an interval of more than one day in 125. Adverse events included pain or difficulty with voiding, increased urinary frequency, urinary incontinence, leak from catheter site, extravasation, extension of in-patient stay, visible haematuria, urethral catheterisation, and urinary tract infection. Problems affected 43 (20.4%) children. In the same day group, 11 (13.3%) patients had problems, in the delayed group 32 (25.6%) had problems; this was statistically significant (p = 0.03). The difference in combined incidence of important problems (requiring urethral catheterisation, extended admission or abandonment of urodynamics) was not statistically significant between the two groups. CONCLUSION: When using suprapubic catheters for urodynamics there is no additional morbidity when catheters are inserted on the same day as the urodynamics study compared to when urodynamic are delayed.

Posterior urethral valves and urachal cyst: an unusual combination.

Combination of posterior urethral valves and urachus remnants has been described as rare occurrence. We report a case of a baby boy with normal antenatal scans, in whom the presence of large urachal cyst and posterior urethral valves causing high pressure bladder and chronic kidney disease was found. The patient underwent ablation of posterior urethral valves at 23 days of life and urachal cyst removal at age of 4 and a half months.

Spontaneous bladder rupture secondary to posterior urethral valves in a boy with Down syndrome.

We describe a case of a 3-year-old boy with Down syndrome who developed a bladder rupture as a consequence of an undiagnosed posterior urethral valve (PUV). He had a history of urinary tract infections and constipation and was acutely admitted in poor condition and underwent laparotomy that revealed peritoneal sepsis secondary to bladder perforation. Bladder was drained using a suprapubic catheter and the condition of the boy gradually improved. Once stable, a cystourethroscopy confirmed the presence of PUV. Video-urodynamic studies performed at the check cystoscopy showed the bladder to be of reduced compliance (end fill pressure at 100 mL fill 30 cmH2O) with raised voiding pressures (76-100 cmH2O) and significant incomplete bladder emptying. Currently, the patient is doing very well, serum creatinine has normalised, he is infection-free and thriving; his bladder is managed with a vesicostomy.

Urodynamic characterization of giggle incontinence in children.

AIMS: Giggle incontinence is a rare condition resulting in excessive urinary incontinence with laughter, where bladder function is otherwise "normal." Urodynamic descriptions of the condition to date are limited. We believe that giggle incontinence has characteristic urodynamic findings. We tested this hypothesis. METHODS: We retrospectively reviewed the urodynamic investigations of patients with giggle incontinence managed in a tertiary regional bladder unit between February 2014 and November 2019. RESULTS: We identified the studies of seven patients, median age 13.5 years (10.4-15.7) of whom 6 were female. All had videourodynamics. Two went on to have further invasive investigation; one had urethral pressure profile and one had ambulatory urodynamics. Detrusor overactivity (DO) was observed in six. DO was asensate in all. In five DO was triggered by laughter and was associated with laughter induced incontinence in four. Six had DO that was not provoked by laugher. In one amplitude of DO was proportional to vigour of laughter. In three patients there was identification of sudden pelvic floor relaxation during laughter resulting in incontinence. Stress urinary incontinence was not observed in any. CONCLUSIONS: Giggle incontinence is a complex phenomenon. Urodynamic diagnosis is challenging and is dependent on eliciting laughter. We present the first urodynamic demonstration that giggle incontinence is associated with laughter-induced, asensate DO and concurrent, momentary pelvic floor relaxation. We hope this will provide a more consistent basis for defining this condition in the future.

Native nephrectomy in the management of hypertension in children with kidney disease: a tool to improve blood pressure control.

AIM: Hypertension in children with abnormal kidneys often requires multiple antihypertensive agents (complex), or could present with complications (e.g. hypertensive encephalopathy). Our objective in this report is to evaluate blood pressure control following unilateral or bilateral laparoscopic native nephrectomy in children with renal hypertension. MATERIALS AND METHODS: Single-centre retrospective review of all children who underwent nephrectomy for management of hypertension over a recent study period (2008-2017) with post-operative follow-up of at least 3 years. We describe the association of age, primary kidney disease and blood pressure and its management including time to resolution following unilateral or bilateral nephrectomy. RESULTS: During the 9-year study period, 21 of 215 (9.8%) children underwent nephrectomy for management of hypertension. We included 19 children [6 with unilateral native nephrectomy (UNN) and 13 with bilateral native nephrectomy (BNN)] in this study as they continued with their follow-up at our centre. Out of the 19 children, 15 had laparoscopic retroperitoneoscopic nephrectomies and 4 had laparoscopic transperitoneal nephrectomies. Six children had unilateral nephrectomy and 13 children had bilateral nephrectomies [7 were pre-transplant (haemodialysis-6, peritoneal dialysis-1) and 6 were post-kidney transplant]. Fifteen of 19 children (79%) had complete resolution [5 UNN and 10 BNN] and 3 (16%) partial resolution [1 UNN and 2 BNN]. One patient with BNN was observed to have no change in blood pressure control. CONCLUSION: Our data demonstrate improved management of hypertension in 95% of the children. Nephrectomy could offer a reasonable treatment option for selected group of complex and complicated renal hypertension.

Autism spectrum disorder and kidney disease.

Neurodevelopmental impairments have been recognised as a major association of paediatric kidney disease and bladder dysfunction, presenting challenges to clinicians and families to provide reasonable adjustments in order to allow access to investigations and treatments. Autism spectrum disorder (ASD) is a common neurodevelopmental disorder characterised by impairments in social interaction/communication and repetitive sensory-motor behaviours. Mental health, learning and physical co-morbidities are common. There is emerging evidence that ASD and kidney disease have some overlaps with genetic copy number variants and environmental factors contributing to shared pathogenesis. Prevalence rates of ASD in kidney disease are currently not known. A high index of suspicion of underlying ASD is required when a young person presents with communication difficulties, anxiety or behaviour that challenges, which should then trigger referral for a neurodevelopmental and behavioural assessment. We discuss practical approaches for providing care, which include understanding methods of communication and sensory, behavioural and environmental adaptations.

Acute kidney injury in children with chronic kidney disease is associated with faster decline in kidney function.

BACKGROUND: This study aimed to investigate the association of acute kidney injury (AKI) with change in estimated glomerular filtration rate (eGFR) in children with advanced chronic kidney disease (CKD). METHODS: Single centre, retrospective longitudinal study including all prevalent children aged 1-18 years with nondialysis CKD stages 3-5. Variables associated with CKD were analysed for their potential effect on annualised eGFR change (ΔGFR/year) following multiple regression analysis. Composite end-point including 25% reduction in eGFR or progression to kidney replacement therapy was evaluated. RESULTS: Of 147 children, 116 had at least 1-year follow-up in a dedicated CKD clinic with mean age 7.3 ± 4.9 years with 91 (78.4%) and 77 (66.4%) with 2- and 3-year follow-up respectively. Mean eGFR at baseline was 29.8 ± 11.9 ml/min/1.73 m2 with 79 (68%) boys and 82 (71%) with congenital abnormalities of kidneys and urinary tract (CAKUT). Thirty-nine (33.6%) had at least one episode of AKI. Mean ΔGFR/year for all patients was - 1.08 ± 5.64 ml/min/1.73 m2 but reduced significantly from 2.03 ± 5.82 to - 3.99 ± 5.78 ml/min/1.73 m2 from youngest to oldest age tertiles (P < 0.001). There was a significant difference in primary kidney disease (PKD) (77% versus 59%, with CAKUT, P = 0.048) but no difference in AKI incidence (37% versus 31%, P = 0.85) between age tertiles. Multiple regression analysis identified age (ß = - 0.53, P < 0.001) and AKI (ß = - 3.2, P = 0.001) as independent predictors of ΔGFR/year. 48.7% versus 22.1% with and without AKI reached composite end-point (P = 0.01). CONCLUSIONS: We report AKI in established CKD as a predictor of accelerated kidney disease progression and highlight this as an additional modifiable risk factor to reduce progression of kidney dysfunction. Graphical abstract.

Vitamin and trace element concentrations in infants and children with chronic kidney disease.

BACKGROUND: There are limited data regarding vitamin and trace element blood concentrations and supplementation needs in children with non-dialysis stages 3-5 of chronic kidney disease (CKD). METHODS: Retrospective cross-sectional review for nutritional blood concentrations measured over a recent 2-year period. In our CKD clinics, nutritional bloods including copper, zinc, selenium and vitamin A, vitamin E, active vitamin B12 and folate are monitored annually. Vitamin D status is monitored every 6-12 months. RESULTS: We reviewed 112 children (70 boys) with median (IQ1, IQ3) age 8.97 (4.24, 13.80) years. Estimated median (IQ1, IQ3) GFR (mL/min/1.73 m2) was 28 (21, 37). Vitamin A, active vitamin B12 and vitamin E concentrations were within normal range in 19%, 23% and 67% respectively, with all others being above normal range. Vitamin D blood concentrations were within desired range for 85% (15% had low levels) and folate blood concentrations were within normal range in 92%, with the remainder above or below target. For trace elements, 60%, 85% and 87% achieved normal ranges for zinc, selenium and copper respectively. Deficiencies were seen for zinc (35%), copper (7%), folate (3%) and selenium (1%), whilst 5%, 6% and 14% had zinc, copper and selenium levels above normal ranges. CONCLUSIONS: Several vitamin and trace element blood concentrations were outside normal reference ranges. Monitoring vitamin D and zinc blood concentrations is indicated due to the percentages with low levels in this group. Targeted vitamin and trace element supplementation should be considered where indicated rather than commencing multivitamin and/or mineral supplementation. Graphical abstract Vitamin and trace element concentrations in infants and children with non-dialysis chronic kidney disease.

Urodynamic Outcomes in Children after Single and Multiple Injections for Overactive and Low Compliance Neurogenic Bladder Treated with Abobotulinum Toxin A.

PURPOSE: Intradetrusor botulinum toxin is an established part of the treatment pathway for pediatric patients with neurogenic bladder. We determined the urodynamic effect of single and multiple administrations of abobotulinum toxin A in pediatric patients with neurogenic bladder, and determined the urodynamic efficacy of abobotulinum toxin A in low compliance vs overactive bladders. MATERIALS AND METHODS: We conducted a single center retrospective review of all pediatric patients with neurogenic bladder treated with abobotulinum toxin A. Videourodynamic data on cystometric capacity, maximum neurogenic detrusor overactivity pressure and compliance were gathered before and after the first abobotulinum toxin A administration and after the last administration. Patients were divided into low compliance and overactive bladder groups depending on initial videourodynamics findings. Paired t-test was used to compare videourodynamic outcomes before vs after abobotulinum toxin A injection. The Mann-Whitney U test was used to compare bladder groups. RESULTS: A total of 30 patients were included in the study. Of these patients 15 (50%) received multiple abobotulinum toxin A injections. There were 16 patients (53%) with overactive bladder. Abobotulinum toxin A administration significantly improved cystometric capacity (p <0.0001) and maximum neurogenic detrusor overactivity (p=0.0001). Overall, compliance did not change significantly (p=0.25). There was no significant difference in urodynamic parameters between first and last abobotulinum toxin A injections. Improvement in cystometric capacity (p=0.05) and maximum neurogenic detrusor overactivity (p=0.25) was similar between the low compliance and overactive bladder groups. Compliance significantly improved in the low compliance group vs the overactive bladder group (p=0.016). CONCLUSIONS: Intradetrusor abobotulinum toxin A improves cystometric capacity and maximum neurogenic detrusor overactivity in pediatric patients with neurogenic bladder. This effect is maintained over multiple injections. Compliance is significantly improved in patients with low compliance bladder vs overactive bladder.

Dysfunctional voiding: the importance of non-invasive urodynamics in diagnosis and treatment.

In Dysfunctional voiding, failure of the external sphincter-pelvic floor complex to relax during micturition results in bladder outflow obstruction with a spectrum of presentation from more benign lower urinary tract dysfunction including recurrent urinary tract infections, to significant upper tract pathology and end-stage renal failure. There is no underlying neurological or anatomical cause and the condition is postulated to be a largely learnt behavior. Diagnosis relies on non-invasive urodynamics and in particular uroflowmetry, plus or minus EMG, which is also used in biofeedback, the mainstay of treatment. The etiology, presentation, diagnosis, and treatment with particular emphasis on non-invasive urodynamics are covered.

Investigating the role of cardiovascular biomarkers in children with pre-dialysis chronic kidney disease: a substitute to echocardiography to detect increased left ventricular mass?

BACKGROUND: Children with chronic kidney disease (CKD) are at increased risk of future cardiovascular (CV) events. Our aim in this prospective single-centre cross-sectional analysis was to assess the relationship of a novel panel of CV biomarkers with left ventricular hypertrophy (LVH). METHODS: A panel of five CV biomarkers (asymmetric dimethyl arginine, high sensitivity C-reactive protein, homocysteine, N-terminal pro-B type natriuretic peptide and uric acid) were measured on the same day as an echocardiogram assessment, in paediatric patients with pre-dialysis stages 3-5 of CKD. RESULTS: Of 73 children aged 5-18 years, LVH, all eccentric, was identified in 38%. Systolic blood pressure (BP), glomerular filtration rate (GFR) and higher intake of calcium-based phosphate binders were significantly worse in children with LVH. In multivariate models analysing each biomarker one at a time with confounders [GFR, systolic BP z-score, anti-hypertensive medication (yes/no) and elemental calcium intake], clinic systolic BP z-score and elemental calcium intake consistently displayed a significant relationship with indexed left ventricular mass (LVMI). None of the evaluated CV biomarkers displayed a significant relationship with LVMI. CONCLUSIONS: In our cohort of children with moderately severe pre-dialysis CKD we have identified no suitable biomarkers to detect LVH. We would therefore recommend that echocardiographic determination of LVMI remains the technique of choice for detection of LVH in children with CKD.

Home Doppler blood pressure monitoring in infants and children: a pilot study of its feasibility and clinical utility.

BACKGROUND: Out-of-hospital measurements of blood pressure (BP) are important for investigating and managing hypertension, but information is limited regarding the right technique to use in infants, small children and those intolerant of ambulatory BP monitoring. The aim of the study was to determine the feasibility and clinical utility of home Doppler BP monitoring (HDBPM). METHODS: This single-centre study included all consecutive patients referred to a tertiary hypertension clinic who underwent HDBPM over a 12-month period. Parents were taught to measure systolic BP using a Doppler instrument. RESULTS: HDBPM was successfully performed in 15 children (median (IQR) age 2.2 (0.9-3.7) years). All six patients referred for confirmation of newly diagnosed hypertension following sustained elevated clinic BP levels were found to be normotensive. Of the nine children referred with 'treated hypertension' for monitoring currently elevated clinic BP levels, four had confirmed hypertension and five were normotensive on HDBPM. In all nine 'treated hypertensive' patients, medication changes and normotensive BP levels were achieved with on-going home Doppler monitoring. 11/15 (73.3%) subjects successfully performed ≥1 BP measurement on at least 24 days of the 28-day monitoring period. The median (IQR) number of BP measurements performed weekly through week 4 of HDBPM were 22 (13-36), 18 (12-38), 18 (11-36) and 16 (8-32) respectively. No patient was hospitalised for further BP monitoring. CONCLUSIONS: HDBPM is acceptable to children and their families, demonstrating its feasibility as an out-of-office measurement technique. The initial results and the reliability of HDBPM need to be explored in larger clinical studies.

Nephrotic syndrome in infancy can spontaneously resolve.

Nephrotic syndrome in the first year of life (NSFL) is a heterogeneous group of disorders, the management of which is supportive, as most patients do not respond to immunosuppression. Prognosis is guarded, as the syndrome tends to lead to end-stage renal failure. We describe four cases, all of which went into spontaneous remission. These patients had severe nephrosis that began postnatally at ages 15 days to 7 months and had preceding symptoms of viral infections. One infant had proven pertussis and required ventilation for respiratory failure. Renal biopsies showed varying degrees of mesangial expansion and increased cellularity. Two biopsies showed mild mesangial sclerosis and the other two only scattered globally sclerosed glomeruli. Supportive treatment was started with 20% albumin infusions, diuretics, penicillin, and thyroxine. Angiotensin-converting enzyme (ACE) inhibitors were used to reduce proteinuria in all infants, and one was also treated with indomethacin. The nephrosis gradually resolved, and protein-lowering medications were successfully weaned completely 5-30 months after presentation. The patients were protein free with normal renal function at last follow-up. Investigations including viral studies and autoimmune profiles were negative. Genetic studies for NPHS1, NPHS2, WT1, and LAM-ß were negative. We therefore describe a subgroup of NSFL with good prognosis associated with infectious prodromes. This is also the first-described case of pertussis causing nephrotic syndrome.

Renal transplantation in a boy with methylmalonic acidaemia.

We present the first reported case of B(12) non-responsive methylmalonic acidaemia due to MMAB mutation to undergo an isolated renal transplant for renal failure. At 8 years of age he was listed for a combined liver and kidney transplant following progressive renal impairment. His metabolic control deteriorated with declining renal function and he was commenced on haemodialysis, leading to marked symptomatic and biochemical improvement. He was therefore relisted for isolated cadaveric renal transplant instead. He underwent successful renal transplantation at 12 years of age and now 6 years post transplant he is enjoying a more normal lifestyle with a marked reduction in plasma methylmalonate.

Collapsing glomerulopathy in a girl with systemic lupus erythematosus.

Collapsing glomerulopathy has increasingly been recognised in patients with conditions other than HIV. The non-HIV form of collapsing glomerulopathy generally shows little response to standard therapies. We describe a 12-year-old girl with a pre-existing diagnosis of systemic lupus erythematosus presenting with renal failure. A renal biopsy gave the histological diagnosis of collapsing glomerulopathy with evidence of "full-house" immunostaining. We propose collapsing glomerulopathy in her case, as no other cause was found was secondary to systemic lupus erythematosus. The immunophenotype of her podocytes suggested a partial de-differentiation that might have been important in her partial response to immunosuppression.