RESUMEN

Glycosuria can be isolated or it can be associated with other tubulopathies like proximal renal tubular acidosis, Fanconi syndrome and endocrine conditions like diabetes mellitus. The SLC5A2 gene codes for the SGLT2 transporter, which is responsible for glucose reabsorption in the proximal tubule. Previously reported cases show that mutation in this gene is associated with intellectual disability, seizure disorder and renin and angiotensin system dysfunction. In his early childhood, a male child displayed persistently high urine glucose levels. We ruled out diabetes mellitus and other tubulopathies before diagnosing the child with familial renal glycosuria, with a novel mutation in the SLC5A2 gene, and screened family members for the same condition. Child's father was found to have isolated renal glycosuria and tested positive for mutation in the SLC5A2 gene.

Asunto(s)

Glucosuria Renal , Transportador 2 de Sodio-Glucosa , Humanos , Masculino , Glucosuria Renal/genética , Glucosuria Renal/diagnóstico , Transportador 2 de Sodio-Glucosa/genética , India , Mutación , Linaje , Preescolar

RESUMEN

OBJECTIVES: Children with disabilities may exhibit a multitude of symptoms, and treatment requires a multidisciplinary approach for a satisfactory outcome. Lack of awareness among physicians, lack of referral, and lack of inter-sectoral coordination have hindered paediatric practice in Tamil Nadu, a state in India with a striking childhood disability rate that warrants a timely interdisciplinary approach. However, the perspectives of paediatricians on paediatric physiotherapy are unknown. The aim of the study was to investigate the perspectives of practicing paediatric physicians in Chennai on the role of physiotherapy in paediatrics. METHODS: For an in-depth exploration, qualitative semi-structured interviews were conducted in person with 10 paediatricians. Audio from the sessions was recorded and transcribed, and data saturation was achieved through iterative analysis. RESULTS: A grounded theory analysis of the results yielded 5 domains under which the perspectives and expectations of the physicians were described, along with the barriers experienced by patients' parents as explained by their paediatrician. The responses highlighted deficits in awareness, structural support, accessibility and direct communication between physicians and physiotherapists. CONCLUSIONS: Paediatric physicians have different opinions, and some ignorance persists concerning paediatric physiotherapy. This study warrants a proper structure of the paediatric rehabilitation unit and regular interdisciplinary meetings and focus group discussions to increase access for parents and improve patient outcomes.

Asunto(s)

Médicos , Derivación y Consulta , Humanos , Niño , India , Grupos Focales , Modalidades de Fisioterapia , Investigación Cualitativa

RESUMEN

Diabetic ketoacidosis (DKA) was observed in a 12-year-old female child recently diagnosed with type 1 diabetes mellitus. A rise in triglyceride (TG) levels accompanied this. High TG levels were suspected due to the lipemic appearance of the serum. Acute pancreatitis and lipemia retinalis are potential complications for hypertriglyceridemia patients. Treating the DKA and insulin deficiency reverted the TG levels to normal without using lipid-lowering agents.

RESUMEN

BACKGROUND: To assess the change in serum total calcium levels during light-emitting diode phototherapy treatment for jaundice in term neonates. METHODS: A prospective observational study was done on 104 term neonates with hyperbilirubinemia in a tertiary care center to investigate the effects of phototherapy using a light-emitting diode device. The total serum bilirubin along with total calcium levels was measured at the start and at the end of phototherapy. Additionally, all the newborns enrolled in the study were evaluated for hypocalcaemia-related symptoms such as jitteriness, irritability/excitability, lethargy, and convulsions. RESULTS: A significant lowering of posttreatment total calcium level compared to that of pretreatment level (p<0.001) was found in our study. Hypocalcemia (serum calcium <8 mg/dL in term neonates) was found in 12.5% of the study subjects. CONCLUSIONS: In the treatment of neonatal jaundice, similar to conventional blue and white light phototherapy, light-emitting diode phototherapy also has hypocalcemia as an adverse effect. We recommend monitoring these babies for hypocalcemia during light-emitting diode phototherapy.