Fluid Overload in Critically Ill Children

Background: A common practice in the management of critically ill patients is fluid resuscitation. An excessive administration of fluids can lead to an imbalance in fluid homeostasis and cause fluid overload (FO). In pediatric critical care patients, FO can lead to a multitude of adverse effects and increased risk of morbidity.Objectives: To review the literature highlighting impact of FO on a multitude of outcomes in critically-ill children, causative vs. associative relationship of FO with critical illness and current pediatric fluid management guidelines.Data Sources: A literature search was conducted using PubMed/Medline and Embase databases from the earliest available date until June 2017.Data Extraction: Two authors independently reviewed the titles and abstracts of all articles which were assessed for inclusion. The manuscripts of studies deemed relevant to the objectives of this review were then retrieved and associated reference lists hand-searched.Data Synthesis: Articles were segregated into various categories namely pathophysiology and sequelae of fluid overload, assessment techniques, epidemiology and fluid management. Each author reviewed the selected articles in categories assigned to them. All authors participated in the final review process.Conclusions: Recent evidence has purported a relationship between mortality and FO, which can be validated by prospective RCTs (randomized controlled trials). The current literature demonstrates that “clinically significant” degree of FO could be below 10%. The lack of a standardized method to assess FB (fluid balance) and a universal definition of FO are issues that need to be addressed. To date, the impact of early goal directed therapy and utility of hemodynamic parameters in predicting fluid responsiveness remains underexplored in pediatric resuscitation

Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy.

Hyperammonaemia in children can lead to grave consequences in the form of cerebral oedema, severe neurological impairment and even death. In infants and children, common causes of hyperammonaemia include urea cycle disorders or organic acidaemias. Few studies have assessed the role of extracorporeal therapies in the management of hyperammonaemia in neonates and children. Moreover, consensus guidelines are lacking for the use of non-kidney replacement therapy (NKRT) and kidney replacement therapies (KRTs, including peritoneal dialysis, continuous KRT, haemodialysis and hybrid therapy) to manage hyperammonaemia in neonates and children. Prompt treatment with KRT and/or NKRT, the choice of which depends on the ammonia concentrations and presenting symptoms of the patient, is crucial. This expert Consensus Statement presents recommendations for the management of hyperammonaemia requiring KRT in paediatric populations. Additional studies are required to strengthen these recommendations

Infantile trauma due to a rat bite

We present two cases of extreme neglect with injuries. These are perfect examples of gender bias. Our first case is a 20-day-old female neonate was brought to the pediatric emergency department with multiple rat bites to the face. A 9-month-old female infant was brought to the emergency care division with multiple rat bites on the eyes and upper extremities. These cases point towards the existing gender bias and extreme social neglect of females in the Indian society

Antenatal diagnosis of Lowe syndrome.

International audienc

Mutations in OCRL1 gene in Indian children with Lowe syndrome.

International audienceBACKGROUND: Lowe syndrome is an X-linked disorder secondary to mutations involving the OCRL1 gene. There are no data on the spectrum of the disease in the Asian population. METHODS: Detailed clinical assessment, a laboratory assessment which included both glomerular and tubular function tests and genomic DNA analysis, was carried out in six unrelated patients with Lowe syndrome. RESULTS: Analysis of this gene in six unrelated patients with Lowe syndrome showed novel mutations in four and previously described mutations in two. These included a missense mutation (exon 10), two nonsense mutations (exons 10 and 21), two frameshift mutations (exons 12 and 21) and a mutation at the acceptor site of intron 22. The mothers were found to be heterozygote carriers in four cases. CONCLUSIONS: This is the first report of mutations involving the OCRL1 gene in patients with Lowe syndrome of Indian origin. These observations have implications for genetic counseling and prenatal diagnosis for families with Lowe syndrome

A unique finding of normal aldosterone level in Bartter’s syndrome

Background: Bartter’s syndrome is a rare autosomal recessive renal tubular disorder characterized by hypokalemia, hypochloremia, metabolic alkalosis, hyperreninemia and hyperaldosteronemia with normotension. Bartter syndrome has five types; type 1 (mutation in sodium/potassium chloride transporter), type 2 (mutation in voltage gated potassium channel), type 3 (mutation on chromosome 1 that encodes Barttin and makes only kidney-specific chloride channel B non-functional), type 4 ( mutation in BSND gene encoding Barttin and makes both kidney-specific chloride channels A & B non-functional) and type 5 (L125P gain in function mutation in calcium-sensing receptor). Case Presentation: A 28-year-old male was hospitalized for evaluation of nausea, vomiting, generalized weakness and persistent chronic hypokalemia. Bartter’s syndrome was suspected based on clinical and laboratory evidence, however serum aldosterone level was normal. Further genetic testing confirmed the diagnosis of Bartter’s syndrome type 3. Conclusions: We report a case of Bartter’s syndrome type 3 with a unique finding of normal aldosterone level

Primary hyperoxaluria type 1 with a novel mutation

Primary hyperoxaluria type 1 [PH1] is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase AGT, which is encoded by the AGXT gene. We report an Indian family with two affected siblings having a novel mutation in the AGXT gene inherited from the parents. The index case progressed to end stage renal disease at 5 months of age. His 4 month old sibling is presently under follow up with preserved renal functio