Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.

Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion disease (MVID). MVID is an intractable diarrhea of infantile onset with characteristic histopathologic findings that requires life-long parenteral nutrition or intestinal transplantation. A large number of such patients eventually develop cholestatic liver disease. Bi-allelic MYO5B mutations are also identified in a subset of patients with predominant early-onset cholestatic liver disease. We present here the compilation of 114 patients with disease-causing MYO5B genotypes, including 44 novel patients as well as 35 novel MYO5B mutations, and an analysis of MYO5B mutations with regard to functional consequences. Our data support the concept that (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED). Genotype-phenotype data are deposited in the existing open MYO5B database in order to improve disease diagnosis, prognosis, and genetic counseling.

The prevalence and diagnostic criteria of health-care associated infections in neonatal intensive care units in Turkey: A multicenter point- prevalence study.

BACKGROUND: Healthcare-acquired infections (HAIs) in the neonatal period cause substantial morbidity, mortality, and healthcare costs. Our purpose was to determine the prevalence of HAIs, antimicrobial susceptibility of causative agents, and the adaptivity of the Centres for Disease Control and Prevention (CDC) criteria in neonatal HAI diagnosis. METHODS: A HAI point prevalence survey was conducted in the neonatal intensive care units (NICUs) of 31 hospitals from different geographic regions in Turkey. RESULTS: The Point HAI prevalence was 7.6%. Ventilator-associated pneumonia (VAP) and central line-associated bloodstream infections (CLABSI) and late onset sepsis were predominant. The point prevalence of VAP was 2.1%, and the point prevalence of CLABSI was 1.2% in our study. The most common causative agents in HAIs were Gram-negative rods (43.0%), and the most common agent was Klebsiella spp (24.6%); 81.2% of these species were extended spectrum beta-lactamase (ESBL) (+). Blood culture positivity was seen in 33.3% of samples taken from the umbilical venous catheter, whereas 0.9% of samples of peripherally inserted central catheters (PICCs) were positive. In our study, 60% of patients who had culture positivity in endotracheal aspirate or who had purulent endotracheal secretions did not have any daily FiO2 change (p = 0.67) and also 80% did not have any increase in positive end-expiratory pressure (PEEP) (p = 0.7). On the other hand, 18.1% of patients who had clinical deterioration compatible with VAP did not have endotracheal culture positivity (p = 0.005). CONCLUSIONS: Neonatal HAIs are frequent adverse events in district and regional hospitals. This at-risk population should be prioritized for HAI surveillance and prevention programs through improved infection prevention practices, and hand hygiene compliance should be conducted. CDC diagnostic criteria are not sufficient for NICUs. Future studies are warranted for the diagnosis of HAIs in NICUs.

Tigecycline therapy in pediatric patients with multidrug resistant bacteremia / Tratamiento con tigeciclina en pacientes pediátricos con bacteriemia multirresistente

INTRODUCTION: Multidrug resistance among bacteria increases the need for new therapeutic options. Tigecycline is one candidate drug, due to property of a wider anti-bacterial spectrum to multi-drug resistant (MDR) pathogens. However, it has still not been approved for use in pediatric patients. METHODS: In this study the effectiveness and safety of tigecycline in children was assessed retrospectively. RESULTS: A total of 36 pediatric patients, received tigecycline therapy with a median of 13 days (2-32 days). Tigecycline was used as a combination therapy in all cases. Microbiological eradication was achieved in 27 patients (75%) and clinical response was observed in 30 patients (83%). There were six cases (17%) of relapse. CONCLUSION: Our findings suggest that tigecycline may be an option for children with severe infections due to multidrug resistant bacteria

INTRODUCCIÓN: La multirresistencia por parte de las bacterias aumenta la necesidad de nuevas opciones de tratamiento. La tigeciclina es un fármaco candidato, debido a la propiedad de presentar un espectro antibacteriano más amplio frente a patógenos multirresistentes. Sin embargo, todavía no se ha aprobado para su uso en pacientes pediátricos. MÉTODOS: En este estudio se evaluó de forma retrospectiva la eficacia y la seguridad de la tigeciclina en niños. RESULTADOS: Un total de 36 pacientes pediátricos recibieron tratamiento con tigeciclina durante una mediana de 13 días (2-32 días). La tigeciclina se utilizó como parte de un tratamiento combinado en todos los casos. Se consiguió la erradicación microbiológica en 27 pacientes (75%) y se observó respuesta clínica en 30 pacientes (83%). Hubo 6 casos (17%) de recidiva. CONCLUSIÓN: Nuestros hallazgos sugieren que la tigeciclina puede ser una opción para niños con infecciones graves debidas a bacterias multirresistentes

Tigecycline therapy in pediatric patients with multidrug resistant bacteremia.

INTRODUCTION: Multidrug resistance among bacteria increases the need for new therapeutic options. Tigecycline is one candidate drug, due to property of a wider anti-bacterial spectrum to multi-drug resistant (MDR) pathogens. However, it has still not been approved for use in pediatric patients. METHODS: In this study the effectiveness and safety of tigecycline in children was assessed retrospectively. RESULTS: A total of 36 pediatric patients, received tigecycline therapy with a median of 13 days (2-32 days). Tigecycline was used as a combination therapy in all cases. Microbiological eradication was achieved in 27 patients (75%) and clinical response was observed in 30 patients (83%). There were six cases (17%) of relapse. CONCLUSION: Our findings suggest that tigecycline may be an option for children with severe infections due to multidrug resistant bacteria.

Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis.

Degerliyurt A, Gündüz M, Ceylaner S, Ünal Ö, Ünal S. Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. Turk J Pediatr 2019; 61: 261-266. Biotin-thiamine-responsive basal ganglia disease is characterized by seizures, dystonia and encephalopathy attacks, with an acute-subacute onset in childhood. It causes cerebral damage especially with caudate head and putamen involvement and may lead to severe sequelae and even death if left untreated. We report a patient with the neonatal form of biotin-thiamine-responsive basal ganglia disease who presented with encephalopathy and lactic acidosis in the neonatal period together with the diagnostic magnetic resonance imaging (MRI) clues. MRI in the neonatal period revealed bilateral involvement of the putamen, thalamus, and perirolandic cortical regions. However, MRI obtained at 32 months revealed involvement of the caudate nuclei in addition to the putamen and thalami. The neuroimaging findings of our patient and relevant literature indicate that patients with biotin-thiamine-responsive basal ganglia disease who are symptomatic in the neonatal period have putamen, thalami, and perirolandic cortical involvement. However, these patients do not have caudate involvement, unlike the patients who present in childhood.

Enzyme Replacement Therapy in Hypophosphatasia

Hypophosphatasia (HPP) is associated with significant morbidity and mortality in pediatric patients. The disease also imposes a high disease-burden in adult-onset HPP. Asfotase alfa (AA) is the first-in-class, bone-targeted, enzyme- replacement therapy designated to reverse the skeletal mineralisation defects in HPP. A male newborn presented with extreme fontanel gap and respiratory distress. He was diagnosed with perinatal lethal HPP thus AA treatment was started. Serum alkaline phosphatase (ALP) levels increased as high as 12,700 U/L during treatment. Any side effect related to AA was not observed. AA may be a valuable emerging therapy for the treatment of HPP.

Experience and Prognosis of Systemic Neonatal Thrombosis at a Level III NICU.

OBJECTIVE: The objective of this article was to evaluate neonates diagnosed systemic thrombosis and their outcomes. METHODS: We retrospectively evaluated data of neonatal systemic thrombosis between January 2011 and December 2016. RESULTS: Among 4376 hospitalized, 30 neonates (0.69%) were diagnosed systemic thrombosis. Their mean birth weight was 2422±1152 g (680 to 4750 g), gestational age was 35±5.4 weeks (25 to 41 wk). There were 25 neonates (83.3%) with venous, 5 patients (16.7%) with arterial thrombosis. The most common sites that thrombi localized were major vessels (n=11) and central nervous system (n=8). Central catheter insertion (76.7%) and prematurity (46.7%) were the most common risk factors. Congenital prothrombotic risk factors included G1691A mutation in factor V Leiden (n=1), mutation in factor XIII (n=1), C677T mutation in methylenetetrahydrofolate reductase (n=6). More than 1 congenital risk factor was identified in 5 patients. The patients were treated with low-molecular weight heparin. The mortality rate was 13.3% (n=4). Two patients required amputation (left foot, left upper extremity). Unilateral renal atrophy (n=1), cerebral palsy (n=2), hemiparesis (n=1) were identified among followed 24 patients. CONCLUSIONS: Critically ill neonates are at risk for thrombosis, and devastating consequences can result. As indwelling catheters and prematurity are important, careful monitorization, early diagnosis and therapy, cautious care of central catheter might reduce the incidence and adverse outcome.

Wheezing, asthma, and atopy in premature infants at 2 years of age.

BACKGROUND/AIM: We aimed to evaluate wheezing, bronchial asthma (BA), and atopy in premature infants at 2 years of age via a cross-sectional study. MATERIALS AND METHODS: Premature infants at <37 weeks of gestational age (GA) were assessed for atopy by skin-prick test and serum immunoglobulin E level at 2 years of age. The family's and infant's histories of allergy, BA, atopy, and wheezing were obtained by questionnaire and from hospital records. RESULTS: There were 98 infants, with mean birth weight (BW) 1517.4 ± 486.5 g and GA 30.8 ± 2.9 weeks. The frequencies of wheezing, asthma, and bronchopulmonary dysplasia (BPD) were 32.7%, 16.3%, and 14.3%, respectively. Skin-prick tests were positive for 11 subjects, with allergy to cereals for 7 infants, egg for 3, and peanut for 1. Wheezing was related to GA, BW, respiratory distress syndrome, mechanical ventilation, sepsis, asphyxia, smoking, antenatal steroid, BA, palivizumab prophylaxis, number of people in the household, and duration of hospitalization (P < 0.05). Wheezing was negatively correlated to GA. Family history of BA, smoking, and number of people in the household were linked to BA (P < 0.05). CONCLUSION: Wheezing was related to degree of premature birth, but BA was linked to BA in the family and smoking. Increased gestation should improve the infant's respiratory health up to 2 years of age.

Evidence Based Weighing Policy during the First Week to Prevent Neonatal Hypernatremic Dehydration while Breastfeeding.

BACKGROUND: Neonatal hypernatremic dehydration is prevented by daily neonatal weight monitoring. We aim to provide evidence-based support of this universally promoted weighing policy and to establish the most crucial days of weighing. METHODS: Weight measurements of 2,359 healthy newborns and of 271 newborns with clinical hypernatremic dehydration were used within the first seven days of life to simulate various weighting policies to prevent hypernatremic dehydration; its sensitivity, specificity and positive predictive value (PPV) of these policies were calculated. Various referral criteria were also evaluated. RESULTS: A policy of daily weighing with a cut-off value of -2.5 Standard Deviation Score (SDS) on the growth chart for weight loss, had a 97.6% sensitivity, 97.6% specificity and a PPV of 2.80%. Weighing at birth and only at days two, four and seven with the same -2.5 SDS cut-off, resulted in 97.3% sensitivity, 98.5% specificity and a PPV of 4.43%. CONCLUSION: A weighing policy with measurements restricted to birth and day two, four and seven applying the -2.5 SDS cut-off seems an optimal policy to detect hypernatremic dehydration. Therefore we recommend to preferably weigh newborns at least on day two (i.e. ~48h), four and seven, and refer them to clinical pediatric care if their weight loss increases below -2.5 SDS. We also suggest lactation support for the mother, full clinical assessment of the infant and weighing again the following day in all newborns reaching a weight loss below -2.0 SDS.

A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus.

Congenital hyperinsulinism (CHI) is the most common cause of neonatal persistent hypoglycemia caused by mutations in nine known genes. Early diagnosis and treatment are important to prevent brain injury. The clinical presentation and response to pharmacological therapy may vary depending on the underlying pathology. Genetic analysis is important in the diagnosis, treatment, patient follow-up, and prediction of recurrence risk within families. Our patient had severe hypoglycemia and seizure following birth. His diagnostic evaluations including genetic testing confirmed CHI. He was treated with a high-glucose infusion, high-dose diazoxide, nifedipine, and glucagon infusion. A novel homozygous mutation (p.F315I) in the KCNJ11 gene, leading to diazoxide-unresponsive CHI, was identified. Both parents were heterozygous for this mutation. Our patient's clinical course was complicated by severe refractory hypoglycemia; he was successfully managed with sirolimus and surgical intervention was not required. Diazoxide, nifedipine, and glucagon were discontinued gradually following sirolimus therapy. The patient was discharged at 2 months of age on low-dose octreotide and sirolimus. His outpatient clinical follow-up continues with no episodes of hypoglycemia. We present a novel homozygous p.F315I mutation in the KCNJ11 gene leading to diazoxide-unresponsive CHI in a neonate. This case illustrates the challenges associated with the diagnosis and management of CHI, as well as the successful therapy with sirolimus.

Neonates with inborn errors of metabolism: spectrum and short-term outcomes at a tertiary care hospital.

We aimed to evaluate the neonates diagnosed as IEM in our neonatal intensive care unit and their outcomes. Among 2994 neonates hospitalized, 51 were diagnosed as IEM (1.7%). Admission complaints were poor feeding, decreased activity, jaundice, seizures, abnormal screening and respiratory problems. Phenylketonuria (11), organic acidemias (8), maple syrup urine disease (5), citrullinemia (5), galactosemia (4), nonketotic hyperglycinemia (4) and tyrosinemia (2) were the most commonly diagnosed IEMs. The follow-up period was 2.5-43 months. Among the 33 neonates followed, 19 had normal development, 9 had developmental delays and 5 had cerebral palsy according to the Guide for Monitoring Child Development. Postnatal age on admission, Apgar score at 5 minutes, being transferred, peritoneal dialysis, cranial ultrasonographic findings, consanguinity and sibling history had significant effects on outcome. Early diagnosis through expanded neonatal screening in countries with high rates of consanguinity, enabling the initiation of early treatment, is essential for achieving low mortality rates and good prognoses.

Optimal Time of Tracheotomy in Infants: Still a Dilemma.

Objective. Infants with respiratory failure may require prolonged intubation. There is no consensus on the time of tracheotomy in neonates. Methods. We evaluated infants applied tracheotomy, time of procedure, and early complications in our neonatal intensive care unit (NICU) retrospectively from January 2012 to December 2013. Results. We identified 9 infants applied tracheotomy with gestational ages 34 to 41 weeks. Their diagnoses were hypotonic infant, subglottic stenosis, laryngeal cleft, neck mass, and chronic lung disease. Age on tracheotomy ranged from 4 to 10 weeks. Early complication ratio was 33.3% with minimal bleeding (1), air leak (1), and canal revision requirement (1). We discharged 7 infants, and 2 infants died in the NICU. Conclusion. Tracheotomy makes infant nursing easy for staff and families even at home. If carried out by a trained team, the procedure is safe and has low complication. When to apply tracheotomy should be individualized, and airway damage due to prolonged intubation versus risks of tracheotomy should be taken into consideration.

Intracardiac thrombus in children: the fine equilibrium between the risk and the benefit.

The medical records of 16 patients diagnosed as intracardiac thrombus were searched. The size, location and outcome of thrombus together with demographic data of patients were assessed. The median age of the patients was 2.2 years. Six patients were newborn and two patients were infant. The median size of thrombus was 9 mm. The localization was right atrium in seven, right ventricle in five, left ventricle in one, pulmonary artery in one, and superior vena cava in two patients. There was prematurity in five, ciyanotic congenital heart disease in one, blood culture positivity in three, malignancy in four, nephrotic syndrome in one, indwelling catheters in 10, and acquired or genetic thrombophilia in six patients as risk factors. In the treatment, the first choice was tissue plasminogen activator in two patients, heparin infusion in one patient and low molecular weight heparin in remaining 12 patients. In nine patients, therapy included parenteral antimicrobials together with anticoagulants. The result was complete resolution in 15 patients and in one patient thrombus was surgically removed. The median time was 16 (2-70) days for 50% resolution and 26 (3-93) days for complete resolution. There was a statistically significant (P = .027 and r = 0.5) correlation between the size and the complete resolution time. There was no anticoagulant therapy related major complication. In patients with intracardiac thrombus, selection of anticoagulant therapy may decrease the risk of complications. Surgery is rarely required and thrombolytics are not usually necessary for resolution of thrombus.

Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.

OBJECTIVE: Congenital hyperinsulinism (CHI) is the commonest cause of hyperinsulinaemic hypoglycaemia in the neonatal, infancy and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely heterogeneous. The aim of this study was to describe the clinical characteristics, analyse the genotype-phenotype correlations and describe the treatment outcome of Turkish CHI patients. DESIGN AND METHODS: A total of 35 patients with CHI were retrospectively recruited from four large paediatric endocrine centres in Turkey. Detailed clinical, biochemical and genotype information was collected. RESULTS: Diazoxide unresponsiveness was observed in nearly half of the patients (n=17; 48.5%). Among diazoxide-unresponsive patients, mutations in ABCC8/KCNJ11 were identified in 16 (94%) patients. Among diazoxide-responsive patients (n=18), mutations were identified in two patients (11%). Genotype-phenotype correlation revealed that mutations in ABCC8/KCNJ11 were associated with an increased birth weight and early age of presentation. Five patients had p.L1171fs (c.3512del) ABCC8 mutations, suggestive of a founder effect. The rate of detection of a pathogenic mutation was higher in consanguineous families compared with non-consanguineous families (87.5 vs 21%; P<0.0001).Among the diazoxide-unresponsive group, ten patients were medically managed with octreotide therapy and carbohydrate-rich feeds and six patients underwent subtotal pancreatectomy. There was a high incidence of developmental delay and cerebral palsy among diazoxide-unresponsive patients. CONCLUSIONS: This is the largest study to report genotype-phenotype correlations among Turkish patients with CHI. Mutations in ABCC8 and KCNJ11 are the commonest causes of CHI in Turkish patients (48.6%). There is a higher likelihood of genetic diagnosis in patients with early age of presentation, higher birth weight and from consanguineous pedigrees.

Charts for weight loss to detect hypernatremic dehydration and prevent formula supplementing.

BACKGROUND: Most breast-fed newborns get the milk they need. However, very rarely milk intake is insufficient mostly as a result of poor breastfeeding techniques. Dramatic weight loss and hypernatremic dehydration may occur. Our aim was to construct charts for weight loss. METHODS: A case-control study was performed. Charts with standard deviation score (SDS) lines for weight loss in the first month were constructed for 2,359 healthy breast-fed term newborns and 271 cases with breastfeeding-associated hypernatremic dehydration with serum sodium level > 149 mEq/L. Day 0 was defined as the day of birth. RESULTS: Many cases with (or who will develop) hypernatremic dehydration (84%; +1 SDS line) fell below the -1 SDS line at day 3, the -2 SDS line at day 4, and the -2.5 SDS line at day 5 in the chart of the healthy breast-fed newborns. Weight loss of cases with permanent residual symptoms was far below the -2.5 SDS. CONCLUSIONS: Already at an early age, weight loss differs between healthy breast-fed newborns and those with hypernatremic dehydration. Charts for weight loss are, therefore, useful tools to detect early, or prevent newborns from developing, breastfeeding-associated hypernatremic dehydration, and also to prevent unnecessary formula supplementing.

Utility of peritoneal dialysis in neonates affected by inborn errors of metabolism.

AIM: Some inborn errors of metabolism induce metabolic encephalopathy through accumulation of neurotoxic metabolites. Rapid elimination of these metabolites by peritoneal or extracorporeal dialysis is crucial to prevent neuronal damage or death. In this retrospective study, we evaluated the outcomes of nine neonates with metabolic crisis treated with peritoneal dialysis. METHOD: Six neonates with hyperammonemic coma (four with organic acidemias, two with urea cycle disorders) and three with leucine accumulation due to maple syrup urine disease (MSUD) were managed with peritoneal dialysis in conjunction with dietary and pharmacological therapy. RESULTS: Three patients with organic acidemia survived. One of the patients was normal; others had moderate and severe neurological impairments. One neonate with organic acidemia and both neonates with urea cycle disorders died. Two of the three patients with MSUD survived without neurological impairment; the other had severe neurological damage and died at 9 months of age due to sepsis. CONCLUSION: Theoretically, extracorporeal dialysis should be the first dialysis treatment of choice; however, this report demonstrates that peritoneal dialysis has a chance to prevent neurological damage in some patients. Therefore, in developing countries without extracorporeal dialysis opportunities, it can be still a life-saving procedure, if it is applied with skilled staff and standard procedures.

Successful treatment of an infant infected with refractory C. parapsilosis with caspofungin.

Neonatal Candida infections are the leading cause of invasive fungal infections that might cause severe morbidity or mortality in a large majority of those affected. Although Candida albicans has been the most common species, Candida parapsilosis is increasingly being recognized as an important cause of invasive candidiasis in neonates. Among the Candida species, C. parapsilosis has been commonly isolated and shown to be less susceptible in vitro to echinocandins than other Candida species. We report an infant who had refractory C. parapsilosis septicemia cured with caspofungin.

Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

Baraitser-Winter syndrome (BRWS) is a rare condition affecting the development of the brain and the face. The most common characteristics are unusual facial appearance including hypertelorism and ptosis, ocular colobomas, hearing loss, impaired neuronal migration and intellectual disability. BRWS is caused by mutations in the ACTB and ACTG1 genes. Cerebro-fronto-facial syndrome (CFFS) is a clinically heterogeneous condition with distinct facial dysmorphism, and brain abnormalities. Three subtypes are identified. We report a female infant with striking facial features and brain anomalies (included polymicrogyria) that fit into the spectrum of the CFFS type 3 (CFFS3). She also had minor anomalies on her hands and feet, heart and kidney malformations, and recurrent infections. DNA investigations revealed c.586C>T mutation (p.Arg196Cys) in ACTB. This mutation places this patient in the spectrum of BRWS. The same mutation has been detected in a polymicrogyric patient reported previously in literature. We expand the malformation spectrum of BRWS/CFFS3, and present preliminary findings for phenotype-genotype correlation in this spectrum.

Heparin infusion to prevent umbilical venous catheter related thrombosis in neonates.

OBJECTIVE: To investigate umbilical venous catheter (UVC) related thrombosis by Doppler echocardiographic evaluation of neonates infused with heparin or placebo. METHODS: We conducted a prospective study to determine UVC-related thrombosis in term and nearterm neonates. Heparin or placebo (0.5 IU/mL) was infused at a rate of 1 mL/hr to the study and control group. Doppler echocardiography was performed at 1, 3, and 5 days after UVC insertion. RESULTS: Forty-six neonates (63% males) with a mean gestational age of 38.2 ± 1.8 weeks, and a mean birth-weight of 2993 ± 563 grams were included. No UVC-related thrombosis was observed in the study group, which included 19 neonates. Among the 27 neonates in the control group, one neonate developed UVC-related thrombosis. There were no statistical differences between the groups for gestational age, birth weight, postnatal age, UVC duration, mortality, mechanical ventilation, and inotrope requirement, and hemagram or coagulation profile. The complications were as follows, mild pulmonary hemorrhage, 6.5% (3); leak-out, 4.3% (2); peritoneal leakage, 2.2% (1); occlusion, 2.2% (1); gastrointestinal findings, 6.5% (3); sepsis, 10.9% (5); and catheter-related thrombosis, 2.2% (1). CONCLUSION: This study demonstrated that heparin infusion of 0.5 IU/mL through the UVC had no effect on catheter-related thrombosis in term and near-term neonates. Randomized controlled trials are necessary to conclusively evaluate the effect of heparin on UVC-related thrombosis.

The implementation of neonatal peritoneal dialysis in a clinical setting.

OBJECTIVE: To investigate etiology, outcome and complications related to neonatal peritoneal dialysis (PD). METHODS: Neonates treated with PD in our neonatal intensive care unit during 2007-2010 were analyzed retrospectively. RESULTS: Among 4036 hospitalized neonates; 20 neonates (0.5%) who underwent 21 cycles of PD [7 preterm, 13 term; 13 female, 7 male] were included. The mean birth weight was 2930.2 ± 720.6 g (1120-4570), mean gestational age was 37.5 ± 3.5 weeks (27-41). The etiologic disorders included inborn errors of metabolism (propionic acidemia, methylmalonic acidemia, citrullinemia, glutaric aciduria type 2, maple syrup urine disease, 10), or acute renal failure secondary to perinatal asphyxia (4), sepsis (2), prematurity (2), hypoplastic left heart syndrome (1), kernicterus (1). The complications included peritonitis (2), early leakage (4), hemorrhage (1), catheter removal (3) and occlusion (2). The mortality rate was 50%. The gestational ages and birth weights of surviving neonates were higher (p < 0.05). Among surviving neonates, chronic renal failure (1), severe (4) and moderate neuromotor impairment (2) developed within 4-43 months. CONCLUSION: PD, although invasive, is an effective therapy in neonates. The complexity and invasiveness of the procedure is probably responsible for high rate of complications and mortality. If appropriate catheter selection and technique in the placement should be done, PD might improve outcome.