Hemodiafiltration maintains a sustained improvement in blood pressure compared to conventional hemodialysis in children-the HDF, heart and height (3H) study.

BACKGROUND: Hypertension is prevalent in children on dialysis and associated with cardiovascular disease. We studied the blood pressure (BP) trends and the evolution of BP over 1 year in children on conventional hemodialysis (HD) vs. hemodiafiltration (HDF). METHODS: This is a post hoc analysis of the "3H - HDF-Hearts-Height" dataset, a multicenter, parallel-arm observational study. Seventy-eight children on HD and 55 on HDF who had three 24-h ambulatory BP monitoring (ABPM) measures over 1 year were included. Mean arterial pressure (MAP) was calculated and hypertension defined as 24-h MAP standard deviation score (SDS) ≥95th percentile. RESULTS: Poor agreement between pre-dialysis systolic BP-SDS and 24-h MAP was found (mean difference - 0.6; 95% limits of agreement -4.9-3.8). At baseline, 82% on HD and 44% on HDF were hypertensive, with uncontrolled hypertension in 88% vs. 25% respectively; p < 0.001. At 12 months, children on HDF had consistently lower MAP-SDS compared to those on HD (p < 0.001). Over 1-year follow-up, the HD group had mean MAP-SDS increase of +0.98 (95%CI 0.77-1.20; p < 0.0001), whereas the HDF group had a non-significant increase of +0.15 (95%CI -0.10-0.40; p = 0.23). Significant predictors of MAP-SDS were dialysis modality (ß = +0.83 [95%CI +0.51 - +1.15] HD vs. HDF, p < 0.0001) and higher inter-dialytic-weight-gain (IDWG)% (ß = 0.13 [95%CI 0.06-0.19]; p = 0.0003). CONCLUSIONS: Children on HD had a significant and sustained increase in BP over 1 year compared to a stable BP in those on HDF, despite an equivalent dialysis dose. Higher IDWG% was associated with higher 24-h MAP-SDS in both groups.

Effects of Hemodiafiltration versus Conventional Hemodialysis in Children with ESKD: The HDF, Heart and Height Study.

BACKGROUND: Hypertension and cardiovascular disease are common in children undergoing dialysis. Studies suggest that hemodiafiltration (HDF) may reduce cardiovascular mortality in adults, but data for children are scarce. METHODS: The HDF, Heart and Height study is a nonrandomized observational study comparing outcomes on conventional hemodialysis (HD) versus postdilution online HDF in children. Primary outcome measures were annualized changes in carotid intima-media thickness (cIMT) SD score and height SD score. RESULTS: We enrolled 190 children from 28 centers; 78 on HD and 55 on HDF completed 1-year follow-up. The groups were comparable for age, dialysis vintage, access type, dialysis frequency, blood flow, and residual renal function. At 1 year, cIMT SD score increased significantly in children on HD but remained static in the HDF cohort. On propensity score analysis, HD was associated with a +0.47 higher annualized cIMT SD score compared with HDF. Height SD score increased in HDF but remained static in HD. Mean arterial pressure SD score increased with HD only. Factors associated with higher cIMT and mean arterial pressure SD-scores were HD group, higher ultrafiltration rate, and higher ß2-microglobulin. The HDF cohort had lower ß2-microglobulin, parathyroid hormone, and high-sensitivity C-reactive protein at 1 year; fewer headaches, dizziness, or cramps; and shorter postdialysis recovery time. CONCLUSIONS: HDF is associated with a lack of progression in vascular measures versus progression with HD, as well as an increase in height not seen in the HD cohort. Patient-related outcomes improved among children on HDF correlating with improved BP control and clearances. Confirmation through randomized trials is required.

Infrequent tacrolimus-induced nephrotoxicity in French patients with steroid-dependent nephrotic syndrome.

BACKGROUND: Chronic nephrotoxicity with potentially irreversible lesions is a major concern regarding calcineurin inhibitor (CNI) treatment in children with severe forms of idiopathic nephrotic syndrome (INS). CASE-DIAGNOSIS/TREATMENT: We retrospectively included all children on CNI for steroid-dependent INS with a duration of CNI treatment of more than 1 year. Only patients in whom CNI could not be replaced by mycophenolate mofetil were included. All included patients underwent a kidney biopsy. All results were expressed as median and range. Twenty-one children (6 girls) were included. Age at disease onset was 49 (29-66) months and treatment duration on CNI was 30 (20-45) months. Age at kidney biopsy was 108 (78-170) months. Number of relapses was 7 (3-9) since disease onset. Serum creatinine level was transiently and moderately increased in two patients. Kidney biopsy revealed minimal change disease in 20/21 patients and focal segmental glomerulosclerosis in 1/21. Evidence for chronic CNI nephrotoxicity was found in one patient revealed by arteriolar hyalinosis and fibrosis in 50% of glomeruli. CONCLUSIONS: CNI-induced chronic nephrotoxicity was infrequent. In patients who require long-term and/or high-dose CNI treatment, kidney biopsies might be useful to exclude chronic CNI-induced lesions.

Norovirus: a novel etiologic agent in hemolytic uremic syndrome in an infant.

BACKGROUND: Hemolytic uremic syndrome is a rare thrombotic microangiopathy usually seen in infants and children below the age of 5 years. It usually follows a bout of bloody diarrhea caused by Shiga toxin producing E coli and is characterized by microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. We report the first case of hemolytic uremic syndrome in an infant following Norovirus gastroenteritis. CASE PRESENTATION: A nine-month-old male infant, was admitted with an 8-day history of watery, non-bloody diarrhea, vomiting and decreased oral intake. Physical exam revealed normal blood pressure, pallor and generalized edema. Laboratory findings were significant for microangiopathic hemolytic anemia, thrombocytopenia and azotemia. Stool studies with Multiplex Qualitative reverse transcriptase PCR were positive for Norovirus GI/G II. His clinical course was unusually severe, complicated by oligoanuria and worsening uremia requiring peritoneal dialysis but with eventual complete recovery. CONCLUSIONS: To our knowledge this is the first case of Norovirus associated HUS in an infant. Given the ubiquity of this virus as a major cause of diarrhea, together with the increased availability of Multiplex Qualitative PCR in reference laboratories, it is quite possible that we shall be seeing more such cases in the future.

Effect of haemodiafiltration vs conventional haemodialysis on growth and cardiovascular outcomes in children - the HDF, heart and height (3H) study.

BACKGROUND: Cardiovascular disease is prevalent in children on dialysis and accounts for almost 30% of all deaths. Randomised trials in adults suggest that haemodiafiltration (HDF) with high convection volumes is associated with reduced cardiovascular mortality compared to high-flux haemodialysis (HD); however paediatric data are scarce. We designed the haemodiafiltration, heart and height (3H) study to test the hypothesis that children on HDF have an improved cardiovascular risk profile, growth and nutritional status and quality of life, compared to those on conventional HD. We performed a non-randomised parallel-arm intervention study within the International Paediatric Haemodialysis Network Registry comparing children on HDF and conventional HD to determine annualised change in cardiovascular end-points and growth. Here we present the 3H study design and baseline characteristics of the study population. METHODS: 190 children were screened and 177 (106 on HD and 71 on HDF) recruited from 28 centres in 10 countries. There was no difference in age, underlying diagnosis, comorbidities, previous dialysis therapy, dialysis vintage, residual renal function, type of vascular access or blood flow between HD and HDF groups. High flux dialysers were used in 63% of HD patients and ultra-pure water was available in 52%. HDF patients achieved a median convection volume of 13.3 L/m2; this was associated with the blood flow rate only ((p = 0.0004, r = 0.42) and independent of access type (p = 0.38). DISCUSSION: This is the largest study on dialysis outcomes in children that involves deep phenotyping across a wide range of cardiovascular, anthropometric, nutritional and health-related quality of life measures, to test the hypothesis that HDF leads to improved cardiovascular and growth outcomes compared to conventional HD. TRIAL REGISTRATION: ClinicalTrials.gov: NCT02063776 . The trial was prospectively registered on the 14 Feb 2014.

Clinical outcomes in children with Henoch-Schönlein purpura nephritis without crescents.

BACKGROUND: Henoch-Schönlein purpura is the most common vasculitis in children. Its long-term prognosis depends on renal involvement. The management of Henoch-Schönlein purpura nephritis (HSPN) remains controversial. This study reports the prognosis of children with HSPN presenting with class 2 International Study of Kidney Disease in Children (ISKDC) nephritis. METHODS: All children with HSPN class 2 diagnosed between 1995 and 2015 in four pediatric nephrology centers were included, and clinical and biological data were collected from the medical files. The primary endpoint was proteinuria remission defined as a proteinuria <200 mg/L. RESULTS: Ninety-two children were included in the study with a median follow-up of 36 (6-120) months; 28% had nephrotic syndrome, 31% proteinuria >3 g/L, 52% proteinuria between 1 and 3 g/L, and 18% proteinuria <1 g/L. Forty-seven percent of patients received orally treatment with steroids alone, 37% received methylprednisolone pulses followed by steroids orally, 18% received no steroids. Although 85% reached remission during follow-up, 12% did not maintain complete remission over time so that only 75% remained in complete remission by the end of the follow-up. Univariate analysis found a higher likelihood of remission in patients with higher proteinuria at disease onset (p = 0.009). This trend was not found in the multivariate analysis after adjusting for treatments, as patients with higher proteinuria were most often treated with steroids. CONCLUSION: Our study shows that one fourth of patients with HSPN class 2 remain proteinuric and thus carry the risk of developing chronic kidney disease over the long term. This finding, together with the better outcome of patients treated with steroids, is in favor of using high-dose steroids orally or IV in these patients.

Even mild cases of paediatric Henoch-Schönlein purpura nephritis show significant long-term proteinuria.

AIM: Henoch-Schonlein purpura (HSP) is a common cause of paediatric renal disease in children, representing 10-15% of paediatric glomerulonephritis. This study examined the long-term outcome of biopsy-proven HSP nephritis to identify correlations between disease development and treatment. METHODS: Patients from three French centres were retrospectively analysed. RESULTS: We followed up 142 patients aged from 2 to 10.5 years with HSP nephritis, graded according to the International Study Group of Kidney Disease in Childhood classification. Mean (±SD) age at presentation was 7.6 ± 2.8 years. Nephrotic range proteinuria was present in 28% of patients with Grade II lesions, 60% with Grade III and 90% with Grade IV. Significant proteinuria (>0.5 g/L) was found in nine of 48 patients 3 years after renal biopsy, eight of 25 patients after 5 years and three of 14 patients after 10 years. There was no correlation between the proteinuria risk at 3, 5 or 10 years and the initial histological lesion or treatment modality. Treatment with angiotensin-converting enzyme inhibitors/angiotensin receptor blockers (ACEi/ARB) was linked to lower proteinuria, especially if it was started precociously. CONCLUSION: Even mild forms of HSP nephritis risk significant long-term proteinuria. Very early introduction of ACEi/ARB may improve the long-term outcome independent of histological lesions.

Rapid and sustained recovery of renal function with transient placement of an intrauretral nephrostomy catheter in an infant with ureteropelvic junction obstruction and acute renal failure.

Ureteropelvic junction obstruction (UPJO) is a common, congenital urinary malformation in the pediatric age group. In most cases the diagnosis is made antenataly and resolves spontaneously. Postnatal diagnosis is made when symptoms of urinary tract infection or abdominal pain occur. We report a six-month-old girl with single kidney and known vesicoureteral reflux grade IV presenting with severe acute renal failure (ARF), requiring acute peritoneal dialysis (PD).After diagnosis of decompensated UPJO, a nephrostomy was performed, and renal function restored within seven days. UPJO was subsequently treated by open pyeloplasty. To our knowledge, this is the first case of UPJO requiring PD due to severe renal failure in a child. Children with UPJO and major morbidity of the contralateral kidney are at risk of renal failure and should therefore be followed carefully to prevent serious complications.

Does rituximab induce hypogammaglobulinemia in patients with pediatric idiopathic nephrotic syndrome?

BACKGROUND: Rituximab (RTX) is a promising strategy for treating steroid-dependent idiopathic nephrotic syndrome (SDNS). RTX induces profound B-cell depletion, suggesting hypogammaglobulinemia as a potential side effect after long-term treatment. PATIENTS AND METHODS: We analyzed immunoglobulin G (IgG) levels in 12 pediatric patients on RTX with a B-cell depletion of a minimum of 3 months and compared the results to 16 patients on orally administered immunosuppressive drugs, such as mycophenolate mofetil (MMF) and/or cyclosporine A (CyA). All patients were in stable remission of SDNS at the time of IgG analysis. RESULTS: IgG levels in the RTX group before RTX introduction were 6.2 ± 1.0 g/L and were not significantly different from the MMF/CyA group (8.2 ± 2.5 g/L). In the MMF/CyA group, five patients had at least one episode of hypogammaglobulinemia. In two of them, this episode was prolonged (>3 months), and only one required IgG supplementation. In the RTX group, eight patients had decreased IgG levels before RTX infusion. After RTX, hypogammaglobulinemia persisted in seven among those eight patients. No decreased IgG plasma levels were noted in patients with normal baseline IgG levels before RTX treatment. CONCLUSION: RTX does not seem to directly induce decreased IgG levels in patients with SDNS, but it seems to prolong a preexisting low IgG levels.

Protocol biopsies in pediatric renal transplant recipients on cyclosporine versus tacrolimus-based immunosuppression.

BACKGROUND: Protocol biopsies can detect subclinical rejection and early signs of calcineurin inhibitor-induced nephrotoxicity. METHODS: In a prospective study, protocol biopsies 3 and 12 months after transplant in transplanted children from two centers were studied. One center used cyclosporine (CsA)-based immunosuppression and the other center used tacrolimus. Patients were on CsA (n = 26, group 1) or on tacrolimus (n = 10, group 2). Patients received basiliximab induction, mycophenolate mofetil, and prednisone. RESULTS: In patients on CsA, 26 kidney biopsies were performed during the 6 months after transplantation. Eighteen protocol biopsies were performed at 3 months post transplant; 13 were normal and five showed rejection (two borderline and three Banff II rejections). Eight biopsies were motivated by an increase of serum creatinine; four were normal and four revealed signs of acute rejection (two borderline and two Banff II). Twelve protocol biopsies were performed after 12 months; all were normal. For patients on tacrolimus (n = 10), ten protocol transplant biopsies were performed at 3 months post-transplant; none showed signs of rejection. No biopsy was performed for an increase of serum creatinine. There were no differences in patient age, number of human leukocyteantigen (HLA) incompatibilities, or other patient characteristics. CONCLUSIONS: Patients on tacrolimus had less acute rejection episodes detected on protocol biopsies 3 months after transplant. Protocol biopsies seem to play an important role in the detection of subclinical rejection in patients on CsA.

Acute tubulointerstitial nephritis.

Acute tubulointerstitial nephritis (TIN) is a frequent cause of acute renal failure, characterised by the presence of inflammatory cell infiltrate in the interstitium of the kidney. Immuno-allergic reaction to certain medications, mainly non-steroidal anti-inflammatory drugs and antibiotics are by far the most important etiology for TIN today, but other situations such as infections, toxins, and vasculitis are known to induce TIN. Incidence of TIN is increasing, probably due to prescription habits and NSAID overuse, representing 3-7% of acute kidney injury in biopsies in children. Avoidance of the causal substance and rapid steroid therapy are hallmarks for patient care, but spontaneous initial recovery is very frequent and the general prognosis seems satisfactory. However, development of chronic TIN, without response to steroid or other immunosuppressive treatment, is possible. As the largest part of TIN is secondary to certain drugs, clear indications in particular for NSAID or antibiotics should be respected to reduce the number of TIN cases.

Pyocolpos: A rare cause of recurrent abdominal pain - Always insist on a thorough physical examination.

Thorough physical examination is a must for proper diagnosis of medical diseases and to elucidate all physical findings. Abdominal pain is a very common presentation to Emergency Department, compromising 5%-10% of all visits, and around a quarter are discharged with no particular diagnosis. Pyocolpos is one of those presentations that requires a thorough physical examination, including that of the external genitalia. A 3-year-old girl presented with recurrent history of abdominal pain and a recent history of fever with acute abdomen picture-like presentation, with difficulty voiding over the past few days. She was previously assessed for recurrent abdominal pain, without any identifiable etiology. Upon inspection for indwelling catheter insertion, absence of the vaginal introitus was noted with a bulging mass and an imperforate hymen. Pyocolpos was diagnosed and drained following hymenotomy. Pyocolpos is a rare complication of hydrocolpos. Enlarged vagina causes extrinsic compression to nearby structures, such as the bladder trigone and ureters, causing hydronephrosis, hydroureter, and other sequel including acute kidney injury and urosepsis. An imperforate hymen must be considered in the differential for chronic and recurrent abdominal pain, and can be easily identified by a thorough physical examination, including that of the external genitalia, which is a must in today's every medical practice.

Brief Overview and Updates on Infantile Hypertrophic Pyloric Stenosis: Focus on Perioperative Management.

Infantile hypertrophic pyloric stenosis is the most common surgical cause of vomiting in infancy. After adequate resuscitation, surgical pyloromyotomy is the standard of care for infants with pyloric stenosis. This article provides a brief overview and updates on hypertrophic pyloric stenosis in infants, with a focus on the surgical approach as well as perioperative management of this pathology. The most controversial aspect of the management of infants with pyloric stenosis is post-pyloromyotomy feeding, as there is no clear consensus in the literature on the best regimen. More randomized controlled trials are needed to establish the optimal resuscitation protocol in the preoperative phase and the ideal feeding regimen in the postoperative phase for infants with hypertrophic pyloric stenosis. [Pediatr Ann. 2021;50:(3):e136-e141.].

Acute Kidney Injury Post-cardiac Surgery in Infants and Children: A Single-Center Experience in a Developing Country.

Introduction: The incidence of acute kidney injury (AKI) in pediatric patients following cardiac surgery varies between 15 and 64%, with a mortality rate of 10-89% among those requiring dialysis. This variation in the incidence and mortality of AKI across studies is probably due to the inconsistent definitions used for AKI. The purpose of this study is to present our experience with AKI post-cardiac surgery with emphasis on predisposing or aggravating factors. Patients and Methods: We evaluated the incidence of AKI using the KDIGO criteria in 150 infants and children undergoing cardiac surgeries between 2015 and 2017. Post-operatively, all patients were admitted to the pediatric intensive care unit (PICU) at a tertiary care center in a developing country. This is a retrospective chart review in which data collected included age, gender, type of heart disease, prior cardiac surgeries, RACHS-1 category, and pre- and post-operative creatinine levels. Neonates were not included in this study. Results: Six percent of the studied patients were below 1 year of age, 84% 1-10 years, and 10% 10-18 years. Fourteen patients (9.3%) developed AKI. Patients with cyanotic heart disease were more prone to develop AKI (78%) compared to those with non-cyanotic heart disease (44%). Children with AKI had a higher length of stay in PICU, 2.56 ± 1.44 vs. 4 ± 2.66 (p- 0.02). Serum lactic acid was higher in patients who developed AKI with a mean value of 6.8 ± 6.9 vs. 2.85 ± 1.55 mmol/l in the non-AKI group (p- 0.03). Lower hemoglobin levels and hyperlactic acidemia were significantly more prevalent in the AKI group. There were five deaths in this series (3.3%), and four of those (80%) were in the AKI group. Conclusion: Using the KDIGO criteria, the incidence of AKI in infants and children following cardiac surgery was 9.3%. This is slightly lower than in previously published studies where the range was between 15 and 64%. Children with cyanotic cardiac disease, hyperlactic acidemia, and anemia were more prone to developing AKI. Identifying patients at risk might help decrease the risk of post-operative AKI.

Hemodiafiltration Is Associated With Reduced Inflammation and Increased Bone Formation Compared With Conventional Hemodialysis in Children: The HDF, Hearts and Heights (3H) Study.

BACKGROUND: Patients on dialysis have a high burden of bone-related comorbidities, including fractures. We report a post hoc analysis of the prospective cohort study HDF, Hearts and Heights (3H) to determine the prevalence and risk factors for chronic kidney disease-related bone disease in children on hemodiafiltration (HDF) and conventional hemodialysis (HD). METHODS: The baseline cross-sectional analysis included 144 children, of which 103 (61 HD, 42 HDF) completed 12-month follow-up. Circulating biomarkers of bone formation and resorption, inflammatory markers, fibroblast growth factor-23, and klotho were measured. RESULTS: Inflammatory markers interleukin-6, tumor necrosis factor-α, and high-sensitivity C-reactive protein were lower in HDF than in HD cohorts at baseline and at 12 months (P < .001). Concentrations of bone formation (bone-specific alkaline phosphatase) and resorption (tartrate-resistant acid phosphatase 5b) markers were comparable between cohorts at baseline, but after 12-months the bone-specific alkaline phosphatase/tartrate-resistant acid phosphatase 5b ratio increased in HDF (P = .004) and was unchanged in HD (P = .44). On adjusted analysis, the bone-specific alkaline phosphatase/tartrate-resistant acid phosphatase 5b ratio was 2.66-fold lower (95% confidence interval, -3.91 to -1.41; P < .0001) in HD compared with HDF. Fibroblast growth factor-23 was comparable between groups at baseline (P = .52) but increased in HD (P < .0001) and remained unchanged in HDF (P = .34) at 12 months. Klotho levels were similar between groups and unchanged during follow-up. The fibroblast growth factor-23/klotho ratio was 3.86-fold higher (95% confidence interval, 2.15-6.93; P < .0001) after 12 months of HD compared with HDF. CONCLUSION: Children on HDF have an attenuated inflammatory profile, increased bone formation, and lower fibroblast growth factor-23/klotho ratios compared with those on HD. Long-term studies are required to determine the effects of an improved bone biomarker profile on fracture risk and cardiovascular health.

Aortic stiffness in ESRD children before and after renal transplantation.

Cardiovascular complications are the main cause of death in end-stage renal failure in adult patients, but those complications start in childhood. Renal transplantation (RT) seems to reduce or even reverse certain abnormalities seen in dialyzed patients. Since RT seems to correct metabolic abnormalities that play a role in cardiovascular disease, aortic pulse wave velocity (APWV) was used to evaluate aortic stiffness before and after RT. We included 15 children on chronic hemodialysis (HD), aged 11.1 +/- 4.8 years and dialysis duration was 12.9 +/- 7.4 months. APWV was performed every 6 months before RT and 6 months after. There was no significant difference in APWV (6.1 +/- 1.3 m/s vs 6.5 +/- 1.4 m/s) and augmentation index (AI) on HD and 6 months after RT. APWV pre-transplant was not correlated with time on HD, but increased with age (p = 0.016). No correlation between APWV pre-/post-transplant and other HD parameters or calcineurin inhibitor exposure were found. Only graft function was inversely correlated with APWV post-transplant (p = 0.02). In conclusion, aortic stiffness seems to remain stable before and 6 months after pediatric RT. Graft function was inversely correlated with APWV. Differences in vessel structure among children of the same age group and increase in aortic stiffness with age may jeopardize data interpretation.

L-carnitine supplementation and EPO requirement in children on chronic hemodialysis.

L-carnitine supplementation has been the subject of heated discussion in the context of the treatment of pediatric hemodialysis patients. The aim of this study was to analyze the effect of intravenous L-carnitine supplementation on the erythropoetin (EPO) requirement in six pediatric hemodialysis patients. All patients were on intravenous L-carnitine (2.5 g per session for patients >30 kg and 1 g for those <30 kg) for 9 months. The EPO dose was adapted monthly to maintain a target hemoglobin (Hb) level of 11-13 g/dl. Prior to the initiation of L-carnitine supplementation, the EPO requirement was 1.15 +/- 0.22 (range 0.37-1.75) microg/kg darbepoetin alpha. Free carnitine (FC) levels were measured before (40.4 +/- 4.9 micromol/l), immediately after the 9-month L-carnitine supplementation period (378.5 +/- 77.3 micromol/l), and 4 months after withdrawal of L-carnitine (95.6 +/- 4.0 micromol/l). After 9 months, the EPO dose was 0.47 +/- 0.10 microg/kg (p < 0.002). The Hb levels increased from 12.2 +/- 0.97 to 14.0 +/- 0.54 g/dl (p < 0.05) within the first 2 months, and the EPO dose was then decreased in a stepwise manner. In conclusion, following intravenous carnitine supplementation, FC levels were higher and persisted longer than expected. This rise was associated with increased Hb levels and decreased EPO requirement. Since controls were missing for this study, prospective long-term multi-center studies on a large number of patients are required to provide solid answers to the controversial question of L-carnitine supplementation in hemodialyzed children.

Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients.

Patients and Methods: A retrospective chart review of 32 GSD- I patients, followed at the American University of Beirut Medical Center, between 2007 and 2018 was conducted. Diagnosis was confirmed by enzymatic and/or genetic studies. Clinical presentation, growth, and kidney outcome were assessed. All patients were evaluated for body mass index, blood parameters of metabolic control including uric acid, alanine, lactic acid, and triglycerides in blood. Kidney evaluation included creatinine clearance, microalbuminuria, citraturia, and calciuria as well as urine microalbumin/creatinine ratio. Results: Almost one third of GSD-I patients developed microalbuminuria. This was detected below 7 months of age in 36% of patients who required early treatment with ACEI with significant reduction in albuminuria. Kidney stones were present in 6% and were associated with hypercalciuria and hypocitraturia. Poor metabolic control reflected by hyperuricemia, lactic acidosis, and hyperalaninemia were noted only in patients who developed microalbuminuria. Conclusion: Glomerular injury may appear in early infancy in poorly controlled patients. Adequate metabolic control and ACEI therapy may improve kidney outcome in GSD I patients. Plasma alanine appears to be a promising and reliable marker reflecting metabolic control in GSD-I patients.

Therapy-resistant anaemia in congenital nephrotic syndrome of the Finnish type--implication of EPO, transferrin and transcobalamin losses.

Congenital nephrotic syndrome of the Finnish type (CNF) is due to NPHS1 mutation and is responsible for a variety of urinary protein losses. We report the case of a 4-month-old girl with a particularly severe form (proteinuria approximately 150 g/l) of CNF. She developed severe non-regenerative anaemia requiring bi-monthly blood transfusions despite daily EPO (600 UI/kg) and iron supplementation. Epoetin pharmacokinetics revealed a urinary loss of 27% of the given dose within the first 24 h after IV injection. However, plasma levels remained increased after 24 h (228 UI/l). Plasma transferrin and transcobalamin levels were undetectable. Atransferrinaemia and atranscobalaminaemia seem to be responsible for disturbed erythropoiesis.

Penile hair strangulation: A prodigious cause of pediatric agitation.

Penile hair strangulation is secondary to a hair tourniquet effect. Albeit a rare presentation in pediatric emergency units, penile hair strangulation must be cautiously noted in any penile pain and edema, to avoid inevitable damage to external genitalia, including penile necrosis, urethrocutaneous fistula, and even amputation.