Mutations in the Na+-HCO3- co-transporter (NBC1) cause permanent proximal renal tubular acidosis (pRTA) with ocular abnormalities. However, little has been known about the relationship between the degree of NBC1 inactivation and the severity of pRTA. This study identified three new homozygous mutations (T485S, A799V, and R881C) in the common coding regions… (More)
Childhood renal osteodystrophy (ROD) is the consequence of disturbances of the calcium-regulating hormones vitamin D and parathyroid hormone (PTH) as well as of the somatotroph hormone axis associated with local modulation of bone and growth cartilage function. The resulting growth retardation and the potentially rapid onset of ROD in children are different… (More)
METHODS We aimed to clarify arteriosclerotic risk and to document possible relationships between cardiovascular risk factors and echocardiographic parameters in paediatric peritoneal dialysis (PD) patients. M-mode/Doppler/tissue Doppler echocardiographic studies and lipid/lipoproteins, homocysteine, high-sensitivity C-reactive protein (HS-CRP) levels and… (More)
BACKGROUND The peritoneal equilibration test (PET) is recommended in paediatric peritoneal dialysis (PD) patients to assist prescription management. Despite contradictory reports, high transporter status is associated with reduced survival rate in adults. Since cardiac disease is one of the main causes of mortality in paediatric PD patients, we aimed to… (More)
Encapsulating peritoneal sclerosis (EPS) is a serious complication of chronic peritoneal dialysis (CPD). In contrast to the adult population, there are few studies regarding EPS in paediatric CPD patients, and the majority of reported patients are from Japan. The aim of the present report is to define the incidence of EPS in our paediatric CPD patients and… (More)
BACKGROUND Encapsulating peritoneal sclerosis (EPS) is a rare complication of peritoneal dialysis (PD) that is associated with significant morbidity and mortality in adults. There are scarce data for children. We performed a 10-year survey to determine the prevalence, risk factors and outcome for EPS in children. METHODS Chronic PD patients in 14 dialysis… (More)
The reason of high mortality in patients with chronic kidney disease (CKD) is cardiovascular disease and arterial calcification has been accepted as an additive factor on this status. In this report we described vascular and cardiac valvular calcifications in an adolescent on CAPD.
Hypoxic-ischemic cerebral injury that occurs during the perinatal period is one of the most commonly recognized cause of long-term neurological deficit in children, often referred to as cerebral palsy. We describe a case with capillary leak syndrome and seizures to co-morbid status epilepticus related to perinatal hypoxic-ischemic encephalopathy in newborn… (More)