Children's Palliative Care; the identified Learning Needs of Paediatricians.

Aim To determine baseline learning needs of Paediatricians in Ireland when caring for children with palliative care needs. Methods A questionnaire based online survey was conducted. Results One hundred and fourteen paediatricians responded to the survey, the majority were Specialist Registrars but almost half were consultant paediatricians (46% n=52). Most had never had formal education in the paediatric palliative care (57% n=48). Areas of future training that were ranked as important or highly important (percentage of respondents) included: pain management (98% n=81), management of the dying child (96% n=80), palliative care resources (95%n=79), advanced care planning (95% n=79) and communication skills (86% n=71). Those surveyed were asked to comment on the challenges of recent clinical interactions, on analysis three overarching themes emerged; best interests of the child, inadequate training and confidence and co-ordinating care. Conclusion This survey highlights the learning needs of paediatricians and will inform the development of meaningful education sessions for doctors.

National Survey Of The Aetiological Assessment Service Of Permanent Childhood Hearing Loss In Ireland

Aim The Universal Neonatal Hearing Screening Programme (UNHS) was implemented nationally in 2014. All infants identified with permanent childhood hearing loss (PCHL) should have a paediatric assessment performed. This survey aimed to assess available paediatric services and to inform service development. Methods All paediatricians involved in assessment of infants with PCHL were identified. A questionnaire was developed using the BAAP standards. Results were collated on excel. Results Thirty-three paediatricians assess children with PCHL, only 18% (6/33) had received specific training. Waiting time for assessment was beyond the recommended timeframe in the majority of cases (mean 14.4 weeks, range 2-52). Timely access to services such as MRI, genetics and ophthalmology was limited. Conclusion The survey highlights significant deficits in the paediatric component of the UNHS. A model of regionalisation with recommendations to improve the paediatric skill set, resources and supporting services is suggested.

Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis.

We report an association of renal tubular acidosis (RTA) in two children with glucose-galactose malabsorption (GGM), who were found to have nephrocalcinosis. Although GGM has been reported previously with nephrocalcinosis, this report is the first to show that renal tubular acidosis could explain the coexistence of nephrocalcinosis in patients with glucose galactose malabsorption.

Urinary bladder perforation in a premature infant with Down syndrome.

Urinary bladder perforation due to bladder catheterization in neonates is a rare iatrogenic complication. It has been reported secondary to various causes and a variety of surgical settings in neonates. A case of urinary bladder perforation due to catheterization in a premature baby with Down syndrome, who presented with progressive renal failure and mild-to-moderate ascites, is reported. Urinary bladder perforation should be considered in a case of neonatal ascites with renal failure, which is unexplainable by other causes. We recommend that bladder catheterization in a baby with Down syndrome, whose urinary bladder may be at an increased risk for perforation as part of their generalized hypotonia, should be performed cautiously. To our knowledge, this is the first case report of bladder perforation due to urinary bladder catheterization in a case of Down syndrome.

Autosomal recessive polycystic kidney disease: outcomes from a single-center experience.

Autosomal recessive polycystic kidney disease (ARPKD) is a relatively common form of pediatric polycystic kidney disease with an incidence of 1:20,000 live births. Previous reports, primarily from populations of European origin, indicate that the clinical presentation and disease course are quite variable. Using a retrospective study design, we sought to determine whether the clinical course and outcome of our multi-ethnic patient cohort differs from the published literature. A 10-year (1990-2000) retrospective study was conducted in which we reviewed the clinical, histopathological, and imaging records of our 31 ARPKD patients. Patients were diagnosed between 0 and 14 years of age, with 17 (55%) presenting within the 1st month of life. The mean follow-up was 67 months and age at last follow-up ranged from 0.5 to 16 years. Of the 17 patients diagnosed as neonates, 11 (65%) had respiratory insufficiency complicated by pneumothoraces. Two died shortly after birth and 2 died within the 1st year of life due to respiratory failure. Among the 13 neonatal survivors, 7 (54%) developed progressive renal insufficiency, whereas 6 of 14 (43%) of those children who presented beyond 1 month of age developed renal insufficiency. Hypertension was present in 55% of our patients, with nearly all neonatal survivors requiring antihypertensive management. Evidence of portal hypertension was found in 10 (37%) of the 27 patients who survived the 1st year of life. In our multi-ethnic ARPKD cohort, the 1-year survival rate (87%) and the clinical variability are comparable to those previously reported. With the recent identification of the PKHD1 gene, characterization of disease-causing mutations should provide new insights into the molecular basis for this phenotypic variability.

Angiotensinogen M235T genotype predicts progression in chronic renal allograft dysfunction.

BACKGROUND: Genotypes of the renin-angiotensin system have been implicated in essential hypertension and in progression of native kidney diseases, but gene effects on progression in chronic renal allograft dysfunction are unclear. METHODS: To examine gene effects on long-term renal allograft function, we conducted a prospective cohort study of 210 nondiabetic renal allograft recipients younger than 36 years of age who underwent transplantation between 1980 and 1993 and were followed up through 1999. All grafts survived more than 1 year and all subjects received cyclosporine-based immunosuppression. DNA was analyzed by polymerase chain reaction for the angiotensin-converting enzyme insertion/deletion and angiotensinogen (AGT) M235T polymorphisms. Linear regression multivariate modeling of the slope of the inverse creatinine-versus-time, survival analyses for time-to-sustained doubling of baseline serum creatinine, time-to-graft loss, and a composite endpoint including patient death were performed. RESULTS: Mean follow-up time was 8.4+/-3 years. Genotype frequencies for each marker system did not deviate significantly from the Hardy-Weinberg equilibrium. The slope of the inverse creatinine-versus-time for AGT 235T/T and M/T was significantly increased compared with M/M ( <0.0001). The AGT 235T/T genotype was also associated with a shorter time-to-sustained doubling of serum creatinine ( =0.001). When subjects were divided into quartiles based on slope magnitude, the frequency of the AGT 235T/T genotype was overrepresented in the fastest progressing group compared with the slowest ( =0.001). The AGT 235T/T genotype was also associated with shorter time-to-graft loss ( =0.007) and the composite endpoint ( =0.001). CONCLUSION: The AGT 235 T allele independently influences long-term decline in renal allograft function.

Ambulatory blood pressure monitoring after renal transplantation in children.

Hypertension occurs commonly following renal transplantation and may cause end organ damage, such as cardiac hypertrophy. This study seeks to determine which features of hypertension are related to cardiac hypertrophy in children after renal transplantation. Ambulatory blood pressure monitoring (ABPM) was performed in 45 pediatric patients, 4.9+/-3.0 years after renal transplantation. ABPM data were related to clinical features and echocardiographic measurements. Hypertension was demonstrated in 33% of patients by casual blood pressure (BP) measurement and in 40% by ABPM. The mean percentage nighttime decline in BP (dipping) was 8.9+/-5.0% for systolic and 13.9+/-7.7% for diastolic BP. Abnormal dipping (<10%) was seen in 58% of patients. BP load (percentage of BP recordings above 95th percentile) was >30% in 44% of patients. Patients taking antihypertensive medication had more abnormal dipping and greater nighttime BP load. The prevalence of left ventricular hypertrophy was 72% before transplantation, 75% after transplantation, and 54% near to ABPM. Left ventricular mass (LVM) indexed to height(3) decreased significantly after transplantation. (40.2+/-14.7 vs. 35.0+/-8.3 g/m(3), P=0.0002). There was no significant relationship between ABPM data and LVM. ABPM was not able to differentiate those patients with persistently elevated LVM. The results suggest that hypertension is not always associated with cardiac hypertrophy following pediatric renal transplantation.

Children with hypoalbuminemia on continuous peritoneal dialysis are at risk for technique failure.

BACKGROUND: Few data are available on the clinical significance of hypoalbuminemia [serum albumin (SA) <35 g/L] in children with end-stage renal disease (ESRD) on continuous peritoneal dialysis (CPD). This study was conducted to analyze the prevalence of hypoalbuminemia, its predictive factors, and its clinical impact in these children. METHODS: A retrospective analysis was done of 180 patients on CPD over the last 22 years. Patients were excluded from the study if they were on CPD for less than four months or had nephrotic syndrome. Demographic, clinical, and biochemical variables were studied. Children continued on CPD until they received a transplant or were transferred to an adult unit or to hemodialysis as a result of technique failure. The subjects were divided into two groups based on SA levels at last follow-up. RESULTS: A total of 135 children was included. After a mean duration of CPD of 573 +/- 437 (120 to 2960) days, 54 children (40%) were observed to have hypoalbuminemia. Four patients (2.9%) died, 7 (5.2%) continued on continuous cyclic peritoneal dialysis, and 13 (9.6%) were transferred to an adult unit for continuation of CPD. Ninety-five (70.3%) were transplanted, and 16 (11.8%) were transferred to hemodialysis because of technique failure. Children in group I (N = 54, SA <35 g/L), compared with group II (N = 81, SA > or =35 g/L), were younger at initiation of PD, more likely to have hypoalbuminemia at one month and six months after initiation of PD, and have more episodes of peritonitis. No differences were seen between the groups in gender, modality of CPD, body surface area, initial body mass index, and presence of hypertension or acidosis. The only factors predictive of hypoalbuminemia on follow-up were low SA at one month after PD and recurrent peritonitis using multiple logistic regression analysis. Evaluating the clinical impact of hypoalbuminemia, we observed a higher incidence of failed PD in children who had hypoalbuminemia. CONCLUSION: Low SA at one month after PD and recurrent peritonitis are predictive of hypoalbuminemia in children on CPD, which is associated with an increased incidence of CPD failure.

Ultrasound biomicroscopy of the eye in cystinosis.

OBJECTIVE: To describe the ocular ultrasound biomicroscopy (UBM) findings in patients with cystinosis. METHODS: Six patients with infantile nephropathic cystinosis, aged 16 to 25 years, and 6 controls (matched for age and spherical refractive error) were examined clinically and with UBM. Scleral reflectivity, corneal and iris thickness, central anterior chamber depth, angle width, trabecular meshwork to ciliary process distance, and ciliary sulcus width were measured. RESULTS: No patient had glaucoma or posterior synechiae, but all had crystals in the trabecular meshwork apparent with gonioscopy. Using UBM, the cornea and iris appeared similar in both groups, but the scleral reflectivity was increased in patients (P =.003). The angle was narrower in patients (mean +/- SD, 20 degrees +/- 7 degrees ) than controls (31 degrees +/- 5 degrees, P<. 001). The anterior chamber was shallower in patients (2556 +/- 197 microm) than controls (2968 +/- 284 microm, P<.001). The ciliary sulcus was closed or narrow in all patients (83 +/- 112 microm) compared with controls (339 +/- 135 microm, P<.001), with a reduction in the trabecular meshwork to ciliary process distance. CONCLUSIONS: This report of ocular UBM findings in cystinosis demonstrated narrowing of the angle and a ciliary body configuration similar to that reported for plateau iris syndrome. Gonioscopy demonstrated crystals in the trabecular meshwork. These findings may explain the predisposition of these patients to glaucoma.

Ambulatory blood pressure monitoring in children: a large center's experience.

Ambulatory blood pressure monitoring (ABPM) is well established in adults and is becoming common in children. We reviewed 190 ABPM studies retrospectively (since 1990) to assess the failure rate, and analyzed the data from 97 patients 5-19 years old (1992-1996) to review the experience gained from the use of this technique in children and adolescents. Seventeen percent (32/190) of studies failed. Most children accepted ABPM, provided it was clearly explained in advance. There were differences between day and night readings of systolic blood pressure (BP), diastolic BP, and heart rate. BP did not correlate with height or weight. "White coat" effect apparently exists in children: clinic systolic BPs were higher than daytime systolic ABPM (no difference in diastolic). Eighty-nine percent (86/97) had an elevated BP load (>30% of readings >95th percentile). The antihypertensive medications of 16% (16/97) of patients were changed after ABPM. The nocturnal fall in BP (expressed as a percentage of the individual mean daytime values) was approximately normally distributed and was independent of age and height. Nocturnal systolic and diastolic dipping were closely correlated. Attenuation of nighttime dipping was observed in children with kidney disease and those with organ transplants. There is a need for normative data for ABPM for North American children. In our study, the technique was useful in selected cases, such as borderline or secondary hypertension, and for therapeutic monitoring when BP control is difficult.

Nosocomial transmission of tuberculosis (TB) associated with care of an infant with peritoneal TB.

Nosocomial transmission of tuberculosis (TB) after exposure to infected peritoneal fluid has not been described. We report the exposure of 111 healthcare workers to infected dialysate from an infant with TB peritonitis. Two (5%) of 39 primary-care nurses, but no doctors or environmental service workers, had apparent tuberculin skin test conversions, raising the concern that patients with peritoneal TB may be a source for nosocomial transmission of TB.

Efficacy of gastrostomy feeding in infants and older children receiving chronic peritoneal dialysis.

OBJECTIVE: To assess the efficacy of supplemental gastrostomy tube (g-tube) feeding in infants and children receiving chronic peritoneal dialysis (CPD). DESIGN: Retrospective observational study. SETTING: Pediatric nephrology division of tertiary care center. PATIENTS: Fifteen patients undergoing g-tube insertion while receiving CPD were included in the study, and were subdivided, on the basis of age, into the following groups: infants (< or = 2.5 years, n = 8); older children (> 2.5 years, n = 7). MAIN OUTCOME MEASURES: Assessment of the effect of CPD and g-tube feeding on statural growth assessed by height standard deviation score (SDS) and percentage weight-for-height, and measured anthropometric variables including triceps skinfold thickness (TSF), midarm muscle circumference (MAMC), and midarm mean circumference (MAC). Assessment of the effects of CPD and g-tube feeding on measured biochemical variables including total protein, albumin, cholesterol, triglycerides, and high density lipoprotein. RESULTS: No significant change in height SDS was observed; however, the reported continuing decline in height SDS in infants was arrested. Percentage weight-for-height increased significantly in infants at 6 months (p = 0.008) and 12 months (p = 0.006) following initiation of g-tube feeding. An increase was also observed in the older child group, being significant at 12 months (p = 0.031) following g-tube insertion. Increases in all anthropometric variables occurred in the infant group during CPD and post g-tube insertion, significant only for MAMC at 12 months (p = 0.037) post g-tube insertion. In older children little change occurred during CPD, with all variables increasing post g-tube insertion, significant only for MAMC at 6 months (p = 0.02) and 12 months (p = 0.02). An increase in total protein and albumin was noted; however, no significant changes in any biochemical parameters were observed. CONCLUSIONS: Supplemental g-tube feeding facilitates weight gain in infants and older children receiving CPD and arrests the decline in height SDS traditionally observed in infants with end-stage renal disease. No significant alteration was observed in measured biochemical variables, although an increase in total protein and albumin was noted.

Effects of amino acid dialysis compared to dextrose dialysis in children on continuous cycling peritoneal dialysis.

OBJECTIVE: To compare the biochemical and nutritional effects of amino acid dialysis with dextrose dialysis in children receiving continuous cycling peritoneal dialysis (CCPD). DESIGN: A prospective randomized cross-over study. SETTING: Nonhospitalized patients. PATIENTS: Seven children aged 1.8 to 16.0 years (mean 8.1 years) with end-stage renal disease who were receiving CCPD. INTERVENTIONS: Each patient received nighttime automated CCPD of dextrose, plus a single daytime dwell of either amino acid dialysate or dextrose dialysate. After 3 months, subjects crossed over to the alternative regimen for a subsequent 3 months. MAIN OUTCOME MEASURES: Creatinine clearance, ultrafiltration, urea, creatinine, electrolytes, total protein, albumin, fasting plasma amino acids, anthropometrics, total body nitrogen. RESULTS: Amino acid dialysis was comparable to dextrose dialysis for creatinine clearance and ultrafiltration. Plasma urea concentrations were higher during amino acid dialysis. No clinical side effects or worsening of metabolic acidosis was observed. Caloric intake increased and protein intake improved. Appetite and total body nitrogen increased in at least half the children during amino acid dialysis. Total plasma protein and albumin concentrations did not change significantly. Fasting plasma concentrations of amino acids after 3 months of amino acid dialysis were comparable to baseline values. For several amino acids, the dose-response curve was blunted after a single amino acid exchange following 3 months of amino acid dialysis, which may, in part, be due to the induction of hepatic enzyme synthesis. CONCLUSIONS: Amino acid dialysis is an efficient form of peritoneal dialysis that should be considered for children with poor nutritional status for whom enteral nutrition supplementation has been unsuccessful. Further study is needed to determine the optimal amount of amino acids to deliver, the best time to administer the amino acid dialysis fluid, and the benefits of adding dextrose to the amino acid solution.

Complications of gastrostomy feeding in children receiving peritoneal dialysis.

Gastrostomy tube (g-tube) feeding is recognized to improve the nutritional delivery to children with end-stage renal disease. A retrospective study was undertaken assessing the complications of g-tube feeding in children receiving peritoneal dialysis (PD). Twenty-three patients, mean age 3.8+/-3.2 years received PD and g-tube feeding for 758 patient-months, with 127 patients receiving PD for 1,969 patient-months used as controls. Peritonitis occurred every 18.4 patient-months in controls and 7.8 patient-months in those with a g-tube. Peritonitis occurred every 6.0 patient-months before and 8.1 patient-months after g-tube insertion in those undergoing g-tube insertion on PD. PD catheter exit site infection (PDESI) occurred every 18.7 patient-months in controls and 16.8 patient-months in those with a g-tube. PDESI occurred every 126 patient-months before and 16.2 patient-months following g-tube insertion. PD catheter replacement secondary to infection occurred every 109.4 patient-months in controls and 39.9 patient-months in those with a g-tube. It did not occur before g-tube insertion and occurred every 32.5 patient-months following insertion. Thirty-four episodes of g-tube exit site infection occurred, in 10 the same organism caused concurrent peritonitis. G-tube replacement occurred on 37 occasions. Hemodynamically significant gastrointestinal bleeding occurred in 3 patients, being terminal in 1. We conclude that, although not without risk, g-tube feeding in patients receiving PD is not contraindicated.

Cutaneous telangiectasias, sparse hair, and type I membranoproliferative glomerulonephritis.

We report the unusual association of normocomplementemic type I membranoproliferative glomerulonephritis in a 10-year-old girl with sparse red hair, absent eyebrows and eyelashes, cutaneous telangiectasias, and an atrial septal defect.

Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess.

Apparent mineralocorticoid excess (AME) is a genetic disorder causing pre- and postnatal growth failure, juvenile hypertension, hypokalemic metabolic alkalosis, and hyporeninemic hypoaldosteronism due to a deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 enzyme activity (11 beta HSD2). The 11 beta HSD2 enzyme is responsible for the conversion of cortisol to the inactive metabolite cortisone and therefore protects the mineralocorticoid receptors from cortisol intoxication. Several homozygous mutations are associated with this potentially fatal disease. We have examined the phenotype, biochemical features, and genotype of 14 patients with AME. All of the patients had characteristic signs of a severe 11 beta HSD2 defect. Birth weights were significantly lower than those of their unaffected sibs. The patients were short, underweight, and hypertensive for age. Variable damage of one or more organs (kidneys, retina, heart, and central nervous system) was found in all of the patients except one. The follow-up studies of end-organ damage after 2-13 yr of treatment in six patients demonstrated significant improvement in all patients. The urinary metabolites of cortisol demonstrated an abnormal ratio with predominance of cortisol metabolites, i.e. tetrahydrocortisol plus 5 alpha-tetrahydrocortisol/tetrahydrocortisone was 6.7-33, whereas the normal ratio is 1.0. Infusion of [11-3H]cortisol resulted in little release of tritiated water, indicating the failure of the conversion of cortisol to cortisone. Thirteen mutations in the HSD11B2 gene have been previously published, and we report three new genetic mutations in two patients, one of whom was previously unreported. All of the patients had homozygous defects except one, who was a compound heterozygote. Our first case had one of the most severe mutations, resulting in the truncation of the enzyme 11 beta HSD2, and died at the age of 16 yr while receiving treatment. Three patients with identical homozygous mutations from different families had varying degrees of severity of clinical and biochemical features. Due to the small number of patients with identical mutations, it is difficult to correlate genotype with phenotype. In some cases, early and vigilant treatment of AME patients may prevent or improve the morbidity and mortality of end-organ damage such as renal or cardiovascular damage and retinopathy. The outcome of treatment in more patients may establish the efficacy of treatment.

Diagnosis and management of stenotic aorto-arteriopathy in childhood.

Stenotic aorto-arteriopathy is an uncommon vascular lesion characterized by segmental arterial stenoses. We reviewed the experience with several management algorithms to define the most effective management course. The clinical records of 14 pediatric patients with acquired SAA who presented over a 16-year period were reviewed. Most patients presented with a mid-thoracoabdominal coarctation and were diagnosed with Takayasu arteritis. Differentiating between Takayasu arteritis and fibromuscular dysplasia was difficult on clinical grounds or by angiography. Medical management of the end-organ disease and renovascular hypertension was only palliative. Selective percutaneous transluminal balloon angioplasty of the stenotic renal arteries had only transient benefits; renal autotransplantation had slightly better success. Dilation of stenosed aortic segments with balloon-expandable endovascular stents and subsequent renal autotransplantation proved useful. Distinguishing SAA resulting from fibromuscular dysplasia caused by Takayasu arteritis in the chronic vaso-occlusive phase may be unnecessary for effective treatment. Therapy should focus on interventions to minimize the end-organ damage caused by the vaso-occlusive manifestations of the disorders.