Chronic haemodialysis in infants and children less than 15 kg.

BACKGROUND: Peritoneal dialysis (PD) is the most commonly used kidney replacement therapy in infants and young children with chronic kidney disease (CKD) stage 5. Chronic haemodialysis (cHD) is the alternative treatment when PD is not possible for technical reasons; however, the difficulties that may be encountered are challenging and require clinicians with specialist training and experience. This study aims to describe the clinical history, complications and outcomes in children < 15 kg on cHD. METHODS: A retrospective, descriptive study of the clinical records of patients weighing < 15 kg on cHD for more than 3 months. The reasons for CKD stage 5, age at start of treatment, duration of haemodialysis, anthropometric and metabolic variables, as well as vascular access, complications and clinical outcome were recorded. RESULTS: Fifteen patients were included between 2006 and 2018 with a median age at start of cHD of 30 (interquartile range (IQR) 13, 39) months and median duration of 15 (IQR 7.5, 25.3) months. Five patients were younger than 2 years. The median weight at start of treatment was 11.2 (IQR 6.4, 12.8) kg. Forty-five tunneled catheters with a median survival of 106 days were used. The main cause of loss of vascular access was obstruction or displacement dysfunction (39%). The catheter-associated infection rate was 0.76 per 1000 catheter days. Ten patients received a successful kidney transplant, 4 were transferred to PD and one died from complications during abdominal surgery. CONCLUSIONS: cHD can be successfully performed in children < 15 kg by addressing specific clinical and technical issues.

[Nephropatic cystinosis: report of one case]. / Cistinosis nefropática: caso clínico que ilustra diagnóstico molecular.

Nephropatic cystinosis (NC) is a rare disease associated with pathogenic variants in the CTNS gene, with a common variant that consists of a 57kb-deletion involving CTNS. Patients with NC that are treated with cysteamine improve their life quality and expectancy. We report a 12-month-old girl with a poor growth rate since the 4th month of life. She was admitted to the Hospital with acute kidney injury, severe dehydration and metabolic acidosis. She was treated with volume restorative and bicarbonate. Proximal tubulopathy and Fanconi's syndrome was diagnosed. Medical treatment improved renal function that was stabilized in stage 4 chronic kidney disease (CKD). Since infantile NC was suspected, CTNS genetic analysis was considered. Genomic DNA was isolated from peripheral blood to perform PCR for exons 3-12 in CTNS gene and for the specific 57kb-deletion PCR. Afterwards, variant segregation analysis was performed in the familiar trio. The genetic analysis showed that the patient was homozygous for the common 57kb-deletion encompassing CTNS that had been inherited from her asymptomatic heterozygous parents. The molecular confirmation allowed genetic counselling for parents and facilitated the access to cysteamine. Oral treatment with cysteamine resulted in improvement of renal function to CKD stage 3. After 16 months of treatment the patient shows metabolic stability and mild recovery of height. Ophthalmologic follow-up detected ocular cystine crystals 12 months after diagnosis, starting cysteamine drops.

Cistinosis nefropática: caso clínico que ilustra diagnóstico molecular / Nephropatic cystinosis: report of one case

Nephropatic cystinosis (NC) is a rare disease associated with pathogenic variants in the CTNS gene, with a common variant that consists of a 57kb-deletion involving CTNS. Patients with NC that are treated with cysteamine improve their life quality and expectancy. We report a 12-month-old girl with a poor growth rate since the 4th month of life. She was admitted to the Hospital with acute kidney injury, severe dehydration and metabolic acidosis. She was treated with volume restorative and bicarbonate. Proximal tubulopathy and Fanconi's syndrome was diagnosed. Medical treatment improved renal function that was stabilized in stage 4 chronic kidney disease (CKD). Since infantile NC was suspected, CTNS genetic analysis was considered. Genomic DNA was isolated from peripheral blood to perform PCR for exons 3-12 in CTNS gene and for the specific 57kb-deletion PCR. Afterwards, variant segregation analysis was performed in the familiar trio. The genetic analysis showed that the patient was homozygous for the common 57kb-deletion encompassing CTNS that had been inherited from her asymptomatic heterozygous parents. The molecular confirmation allowed genetic counselling for parents and facilitated the access to cysteamine. Oral treatment with cysteamine resulted in improvement of renal function to CKD stage 3. After 16 months of treatment the patient shows metabolic stability and mild recovery of height. Ophthalmologic follow-up detected ocular cystine crystals 12 months after diagnosis, starting cysteamine drops.

Outcome of tunnelled central venous catheters used for haemodialysis in children weighing less than 15 kg.

PURPOSE: Central venous catheters (CVC) are frequently used for haemodialysis (HD) in children. However, there is paucity of information on the outcomes of CVCs when used for HD in very young patients. Our objective is to report the success, safety and complication rates of CVCs used for HD in children weighing less than 15 kg. MATERIALS AND METHODS: This is a single-center retrospective study of all patients with end-stage renal disease (ESRD) weighing <15kg, who underwent a tunneled CVC placement for HD, between July 2006 and June 2012 at our institution. Analysed data included clinical background, age and weight at initiation of HD, outcome of HD, CVC vein insertion site, reason for removal, and catheter survival (in days). RESULTS: Thirty-one CVC were placed in 11 patients weighing <15 kg, 8 males and 3 females. The main causes of ESRD were renal dysplasia and congenital nephrotic syndrome. At the beginning of HD, mean age was 27.5 (range 5-60) months and mean weight was 10.4 kg (4.5-13 kg). The preferred insertion site was the right internal jugular vein (90%). Mean duration of HD was 312 days. Mechanical factors were the main reason for catheter removal (39%). Mean catheter survival was 110 days/catheter. CONCLUSIONS: We believe our study provides relevant information and encouraging data to support the use of CVC for HD in this cohort of infants; however, further improvement in prevention of catheter thrombosis and management of infections needs to be achieved.