Aim To describe a cohort of children who presented to a tertiary renal service with a history of twin to transfusion syndrome (TTTS). To describe the age, mode of presentation, renal functions at presentation and long term outcome. Methods Retrospective case note review from 2000–2013 of all children with a history of TTTS presenting to a tertiary centre for specialist renal input. The diagnosis of TTTS was based on antenatal ultrasonographic evidence of TTTS or on the (weight/haemoglobin discrepancy). Results Eight sets of twins were identified. GA ranged from 29+2–34+2 weeks. All were monochorionic twins. Four twins had intrauterine laser treatment for TTTS. Age at presentation ranged from 1 day to 10 yrs 7 months. In our cohort 6 were donor twins and 2 were recipient twins. Six children were referred from neonatal units with renal impairment. Serum creatinine ranged from 126–400 micromol/L at presentation. Ultrasound of at presentation showed small, echogenic kidneys, some with cystic dysplastic changes. All the 8 children have chronic kidney disease (CKD) stage 3–5. Four children were transplanted and the rest continue to receive standard CKD management. Four had neurological deficits at follow up, ranging from mid developmental delay to severe global developmental delay with hypsarrythmia and difficult to control seizures and visual impairment. Two twin pairs had lost their siblings in utero. The remaining six twin siblings were alive and well at last follow up. Conclusion TTTS is caused by an unbalanced shunting of blood between monochorionic twins. Chronic hypotension and hypovolaemia causes renal insufficiency in the donor twin. However two twins in our cohort were recipients. Previous studies have reported no long term renal impairment after intrauterine laser treatment of severe TTTS. This case series highlights the renal complications associated with TTTS. Despite the known risk of CRF in TTTS following intervention, our series also included two late/incidental presentations. This highlights the need to be aware of this complication in TTTS survivors and consider appropriate screening during follow up.

Aims Pure red cell aplasia (PRCA) is an isolated arrest of erythropoiesis which has been reported to occur in patients with chronic kidney disease (CKD) secondary to the development of antibodies against erythropoiesis-stimulating agents, usually erythropoietin α. Methods To report the successful outcome of pre-emptive living related renal transplantation in a 6.5-year-old boy with CKD due to renal dysplasia who developed antierythropoietin antibodies (anti-epo Abs) resulting in transfusion-dependent PRCA. He developed a papular skin rash with lesions on his arms and legs nine months prior to his renal transplantation which was confirmed on skin biopsy as acute panniculitis. Results He was noted to have anaemia requiring increasing doses of subcutaneous erythropoietin β up to 465 Units/kg/week for two years. Two months prior to transplantation, his haemoglobin was 4.6 g/dl with a low reticulocyte count of 2×109/l (0.1%) requiring his first blood transfusion of washed cells. His bone marrow aspirate and trephine biopsy one month before renal transplantation confirmed PRCA. There was no evidence of malignancy, haemolysis, haemorrhage, viral infection or auto-immune disease. His erythropoietin β was discontinued and he had high titres of anti epo Abs of 63U/ml (limit of positivity of 0.1 U/ml). He received his second blood transfusion before his renal transplant when his haemoglobin was 6.7 g/dl. He underwent a living related renal transplantation from his maternal uncle (mismatch 0,1,1) using triple immunosuppression (azathioprine and tacrolimus from one and two weeks prior to transplantation, respectively, with corticosteroids). His anti-epo Abs reduced further from 13 to 6.5 U/ml 2 weeks post-transplantation but his haemoglobin had fallen to 5.9 g/dl when he required his third and final blood transfusion. Currently, he is three months post-transplant and has been maintaining a stable haemoglobin of between 9.7 and 11.0g/dl, with ferritin of 605 mcg/l (not on iron or folate supplementation), reticulocyte count of 84–130×109/l (2–4%) with declining anti-epo Abs of 2.4U/ml. He has good renal allograft function with plasma creatinine of 52 μmol/l giving an estimated glomerular filtration rate of 75 ml/min/1.73 m2. Conclusion This is the first reported paediatric case where renal transplantation has successfully treated transfusion-dependent PRCA secondary to neutralising anti-epo Abs against erythropoietin β.

Mutations in hepatocyte nuclear factor 1B (HNF1B), which is a transcription factor expressed in tissues including renal epithelia, associate with abnormal renal development. While studying renal phenotypes of children with HNF1B mutations, we identified a teenager who presented with tetany and hypomagnesemia. We retrospectively reviewed radiographic and laboratory data for all patients from a single center who had been screened for an HNF1B mutation. We found heterozygous mutations in 21 (23%) of 91 cases of renal malformation. All mutation carriers had abnormal fetal renal ultrasonography. Plasma magnesium levels were available for 66 patients with chronic kidney disease (stages 1 to 3). Striking, 44% (eight of 18) of mutation carriers had hypomagnesemia (<1.58 mg/dl) compared with 2% (one of 48) of those without mutations (P < 0.0001). The median plasma magnesium was significantly lower among mutation carriers than those without mutations (1.68 versus 2.02 mg/dl; P < 0.0001). Because hypermagnesuria and hypocalciuria accompanied the hypomagnesemia, we analyzed genes associated with hypermagnesuria and detected highly conserved HNF1 recognition sites in FXYD2, a gene that can cause autosomal dominant hypomagnesemia and hypocalciuria when mutated. Using a luciferase reporter assay, we demonstrated HNF1B-mediated transactivation of FXYD2. These results extend the phenotype of HNF1B mutations to include hypomagnesemia. HNF1B regulates transcription of FXYD2, which participates in the tubular handling of Mg(2+), thus describing a role for HNF1B not only in nephrogenesis but also in the maintenance of tubular function.

The Pediatric Nephrology Spring Meeting 2009, a joint meeting of the German Gesellschaft für Pädiatrische Nephrologie (GPN, the former APN) and the Sectie Kindernefrologie of the Dutch Society for Pediatrics was held in Amsterdam, the Netherlands on March 28 – 31,

The majority of infants and young children on peritoneal dialysis (PD) require enteral feeding to achieve their growth potential. We report our experience of gastrostomy feeding in 29 children on PD over 11 years. Fifteen children, median age 3.9 (0.5–13.3) years had a percutaneous gastrostomy (PEG) or Nissen fundoplication and gastrostomy (N and G) or open gastrostomy (OG) before starting PD (group1). Nine children, age 0.7 (0.5–12.4) years, had a N and G or OG (group 2) and 5, age 5.1 (1–15.1) years, a PEG (group 3) after PD catheter insertion/start of PD. In group 1 (257 months gastrostomy feeding with PD), there were 0.6 episodes of peritonitis/patient year. Nine PEGs were replaced electively after 27 (19–50) months, with bleeding from an embedded flange the only complication. One PEG replaced by a button ruptured the track, causing Candida peritonitis. In group 2 (130 months G and PD), there were 1.4 episodes of peritonitis/patient year. Two children developed paraoesophageal hernias, which were successfully repaired. Four children in group 3 developed peritonitis soon after PEG placement. Two transferred to haemodialysis, 1 remained on PD after treatment of Candida peritonitis and 1 subsequently died. Only 2 of the 17 children who have had renal transplants still need gastrostomy feeds. We recommend placement of a PEG or OG if an anti-reflux procedure is necessary prior to starting PD. Placement of a PEG while on PD is contraindicated, but an OG is a safe alternative procedure.

An inadequate nutritional intake is common in infants and young children with chronic and end-stage renal failure (CRF/ESRF), causing poor weight gain and growth retardation. In a programme of enteral feeding (EF), growth, nutritional intake and outcome for oral feeding were evaluated in 35 children with CRF/ESRF, mean (range) age 1.6 (0–4.9) years at start of EF for 30 (12–60) months. Twenty-nine had a glomerular filtration rate of 12.1 (6–26) ml/min per 1.73 m2 and 6 were on peritoneal dialysis. Mean (SD) weight standard deviation scores (SDSs) in the 0 to 2-year age group (n=26) were –3.3 (1.0) 6 months before EF, –3.1 (1.3) at the start, –1.7 (1.4) at 1 year, (P=0.0003) and –1.4 (1.8) at 2 years, (P=0.0008). Height SDSs were –2.9 (0.7), –2.9 (1.2), –2.2 (1.2) (P=0.008) and –2.1 (1.3) (P=0.004). Weight SDSs in the 2 to 5-year age group (n=9) were –2.3 (1.2), –2.0 (1.1), –1.1 (1.3) (P=0.002) and –0.9 (1.0) (P=0.04). Height SDSs were –2.8 (0.6), –2.3 (0.7), –2.0 (0.7) and –2.0 (0.8). There was no change in energy intake as a percentage of the estimated average requirement, nor was this exceeded. Percentage energy from the EF in the 0 to 2 year age group remained unchanged despite an absolute increase in energy intake with age. Twenty-one have had renal transplants, of whom 86% eat and drink normally. Long-term EF prevents or reverses weight loss and growth retardation in children with CRF/ESRF, with the achievement of significant catch-up growth if started before age 2 years.

Journal of Pediatric Gastroenterology and NutritionVolume 17, Issue 4 p. 473-473 ORIGINAL ARTICLE: PDF Only 85. HUMORAL MECHANISMS OF ANOREXIA AND VOMITING A M Ravelli, A M Ravelli Hospital for Sick Children, Great Ormond Street, London, UKSearch for more papers by this authorS E Ledermann, S E Ledermann Hospital for Sick Children, Great Ormond Street, London, UKSearch for more papers by this authorR S Trompeter, R S Trompeter Hospital for Sick Children, Great Ormond Street, London, UKSearch for more papers by this authorT M Barratt, T M Barratt Hospital for Sick Children, Great Ormond Street, London, UKSearch for more papers by this authorP J Milla, P J Milla Hospital for Sick Children, Great Ormond Street, London, UKSearch for more papers by this author A M Ravelli, A M Ravelli Hospital for Sick Children, Great Ormond Street, London, UKSearch for more papers by this authorS E Ledermann, S E Ledermann Hospital for Sick Children, Great Ormond Street, London, UKSearch for more papers by this authorR S Trompeter, R S Trompeter Hospital for Sick Children, Great Ormond Street, London, UKSearch for more papers by this authorT M Barratt, T M Barratt Hospital for Sick Children, Great Ormond Street, London, UKSearch for more papers by this authorP J Milla, P J Milla Hospital for Sick Children, Great Ormond Street, London, UKSearch for more papers by this author First published: 01 November 1993 https://doi.org/10.1002/j.1536-4801.1993.tb11101.xAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Volume17, Issue4November 1993Pages 473-473 RelatedInformation

In children with chronic renal failure (CRF) anorexia, nausea, and vomiting are common yet poorly understood symptoms. We studied oesophageal and gastric motor function in 12 children (age 7 months-6.8 years) with severe CRF not undergoing dialysis who had persistent anorexia and vomiting. Eight of 12 patients had significant gastro-oesophageal reflux (reflux index 5.2% to 21.9%, mean 11.3%; controls <5%), 7/10 had altered gastric half emptying times (T1/2) for 5% glucose or milk (glucose meal-controls: 8-14 min, two CRF patients: 18-25 min; milk meal-controls: 48-72 min, five CRF patients 27, 28, 82, 83, and 110 min). Gastric antral electrical control activity was abnormal in 6/11 patients, with different types of gastric dysrhythmias whereas the remainder and controls showed a regular dominant frequency of 0.05 Hz. In 7/9 patients fasting serum gastrin concentration was raised (53 to >400, mean 168 pmol/l, controls <40 pmol/l). All CRF patients with anorexia and vomiting had one or more disorder of foregut motility. The nature and variety of the motor disorders and the raised concentrations of circulating gastrin suggest that the normal environment generated by CRF affects the function of the smooth muscle of the foregut.

Journal of Pediatric Gastroenterology and NutritionVolume 15, Issue 3 p. 354-354 ORIGINAL ARTICLE: PDF Only 79 FOREGUT MOTOR FUNCTION IN CHRONIC RENAL FAILURE (CRF) A M Ravelli, A M Ravelli Institute of Child Health, London, WC1 UKSearch for more papers by this authorS E Ledermann, S E Ledermann Institute of Child Health, London, WC1 UKSearch for more papers by this authorW M Bisset, W M Bisset Institute of Child Health, London, WC1 UKSearch for more papers by this authorR S Trompeter, R S Trompeter Institute of Child Health, London, WC1 UKSearch for more papers by this authorP J Milla, P J Milla Institute of Child Health, London, WC1 UKSearch for more papers by this author A M Ravelli, A M Ravelli Institute of Child Health, London, WC1 UKSearch for more papers by this authorS E Ledermann, S E Ledermann Institute of Child Health, London, WC1 UKSearch for more papers by this authorW M Bisset, W M Bisset Institute of Child Health, London, WC1 UKSearch for more papers by this authorR S Trompeter, R S Trompeter Institute of Child Health, London, WC1 UKSearch for more papers by this authorP J Milla, P J Milla Institute of Child Health, London, WC1 UKSearch for more papers by this author First published: 01 October 1992 https://doi.org/10.1002/j.1536-4801.1992.tb10748.xAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Volume15, Issue3October 1992Pages 354-354 RelatedInformation