The risk of ESRD in kidney transplant donors.
Pediatric nephrology (Berlin, Germany)
Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.
Journal of inherited metabolic disease
2016; 39 (6): 821-829
Comment on: World Kidney Day 2016: averting the legacy of kidney disease-focus on childhood
2016; 31 (10): 1709
Role of Twenty-Four-Hour Ambulatory Blood Pressure Monitoring in Children on Dialysis
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
2011; 6 (4): 870-876
Hawkinsinuria is a rare disorder of tyrosine metabolism that can manifest with metabolic acidosis and growth arrest around the time of weaning off breast milk, typically followed by spontaneous resolution of symptoms around 1 year of age. The urinary metabolites hawkinsin, quinolacetic acid, and pyroglutamic acid can aid in identifying this condition, although their relationship to the clinical manifestations is not known. Herein we describe clinical and laboratory findings in two fraternal twins with hawkinsinuria who presented with failure to thrive and metabolic acidosis. Close clinical follow-up and laboratory testing revealed previously unrecognized hypoglycemia, hypophosphatemia, combined hyperlipidemia, and anemia, along with the characteristic urinary metabolites, including massive pyroglutamic aciduria. Treatment with N-acetyl-L-cysteine (NAC) restored normal growth and normalized or improved most biochemical parameters. The dramatic response to NAC therapy supports the idea that glutathione depletion plays a key role in the pathogenesis of hawkinsinuria.
View details for PubMedID 27488560
ACID-BASE CHANGES AND ACETATE METABOLISM DURING ROUTINE AND HIGH-EFFICIENCY HEMODIALYSIS IN CHILDREN
1981; 19 (1): 70-79
Pre- or postdialysis BP recordings are imprecise, can be biased, and have poor test-retest reliability in children on dialysis. We aimed to examine the possible differences between pre- and postdialysis BP levels and 24-hour ambulatory BP monitoring (ABPM) in diagnosis of hypertension (HTN).Twenty-four children on dialysis had 24-hour ABPM in the interdialytic period, and values were compared with average pre- and postdialysis systolic BP (SBP) and diastolic BP (DBP) recordings that week. Each patient had an echocardiogram to determine presence of left ventricular hypertrophy (LVH).By ABPM, 8% of patients had white coat HTN and 12% had masked HTN. There was no significant difference in diagnosis of systolic HTN based on ABPM daytime SBP mean or load and postdialysis SBP. However, only 15% of patients had diastolic HTN based on postdialysis measures, whereas 46% of patients had significantly elevated daytime DBP loads and 71% had high nighttime DBP loads on ABPM. Forty-eight percent of patients were SBP nondippers. Children with LVH had higher daytime and nighttime SBP loads, significantly higher daytime and nighttime DBP loads, and lesser degree of nocturnal dipping of SBP compared with those who did not.ABPM is more informative than pre- and postdialysis BPs and improves the predictability of BP as a risk factor for target organ damage. Diagnosis and treatment monitoring of HTN among pediatric dialysis patients is enhanced with addition of ABPM.
View details for DOI 10.2215/CJN.07960910
View details for Web of Science ID 000289223600026
View details for PubMedID 21273374
View details for PubMedCentralID PMC3069381
Changes in acid-base status and plasma acetate concentrations were studied in eight children during 11 hemodialysis sessions. During dialysis, the blood bicarbonate concentration fell (20.5 +/- 0.7 to 19.6 +/- 0.8 mEq/liter), the Pco2 fell (33.4 +/- 0.8 to 27.5 +/- 1.4 mm Hg), and the pH rose (7.42 +/- 0.01 to 7.48 +/- 0.02). During the hour after dialysis, the bicarbonate concentration rose to normal (23.4 +/- 0.7 mEq/liter), the PCO2 rose (32.8 +/- 0.8 mm Hg), and the pH remained unchanged. The half-life of plasma acetate, measured after dialysis, was 8.7 min. During five "high-efficiency" dialysis sessions (urea clearance, greater than 3.0 ml/min/kg), blood bicarbonate concentration fell 3.2 mEq/liter, PCO2 fell 8.7 mm Hg, and plasma acetate rose to 7.51 mmoles/liter, whereas during six "routine efficiency" dialysis sessions (urea clearance. 1.5 to 3.0 ml/min/kg), blood bicarbonate rose 1.0 mEq/liter, PCO2 fell 36 mm Hg, and plasma acetate rose to 3.52 mmoles/liter. At 1 hour after the end of dialysis, blood bicarbonate, PCO2, and plasma acetate concentrations were similar in the two groups. Clinical problems occurred more frequently in the high-efficiency group during dialysis although the difference was not significant. The data indicate that (1) dialysis with acetate buffer effectively corrects predialysis metabolic acidosis, (2) although children have a high rate of acetate metabolism, during high-efficiency dialysis this rate is exceeded by the influx of acetate, and acid-base abnormalities occur. These abnormalities are transient but may cause clinical problems.
View details for Web of Science ID A1981LA64000009
View details for PubMedID 6783778