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The Journal of Pediatrics
Volume 150, Issue 6
, Pages 631-634.e1
, June 2007
Nephropathy Advancing to End-Stage Renal Disease: A Novel Complication of Lysinuric Protein Intolerance
References
- . Protein intolerance with deficient transport of basic amino acids. Lancet. 1965;2:813–816
- . Basolateral-membrane transport defect for lysine in lysinuric protein intolerance. Lancet. 1980;1:1219–1221
- . Lysinuric protein intolerance, an autosomal recessive disease. In: Clin Genet. 1971;p. 214–222
- Lysinuric protein intolerance—studies on 17 Italian patients. Am J Hum Genet. 1993;53:908
- A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect. Hum Mutat. 2000;16:270–271
- Identification and characterization of a membrane protein (y(+)L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y(+)L—a candidate gene for lysinuric protein intolerance. J Biol Chem. 1998;273:32437–32445
- Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intolerance gene. Nat Genet. 1999;21:293–296
- SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet. 1999;21:297–301
- . Lysinuric protein intolerance. Am J Med. 1975;59:229–240
- B and T cell immunity in patients with lysinuric protein intolerance. Clin Exp Immunol. 1999;116:430–434
- Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course. J Pediatr. 1995;126:246–251
- Role of hematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance. Eur J Pediatr. 1993;152:437–440
- . Necropsy findings in lysinuric protein intolerance. J Clin Pathol. 1996;49:345–347
- . Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance—case reports and autopsy findings of 4 pediatric patients. Hum Pathol. 1994;25:400–407
- . Acute amino acid nephrotoxicity. J Lab Clin Med. 1983;101:130–140
- Genetic variation at the ACE gene is associated with persistent microalbuminuria and severe nephropathy in type 1 diabetes. Diabetes. 2005;54:1238–1244
- . Serum cystatin C is superior to serum creatinine as a marker of kidney function: a meta-analysis. J Am Soc.Nephrol. 2002;13:452A
- Cystatin C as a marker of renal function in kidney transplant patients. Transplant Proc. 2005;37:3844–3847
- . A comparison between cystatin C, plasma creatinine and the Cockcroft and Gault formula for the estimation of glomerular filtration rate. Nephrol Dial Transplant. 2003;18:2024–2031
- Progression of chronic kidney disease: the role of blood pressure control, proteinuria, and angiotensin-converting enzyme inhibition—a patient-level meta-analysis. Ann Int Med. 2003;139:244–252
- K/DOQI clinical practice guidelines on hypertension and antihypertensive agents in chronic kidney disease. [Anon] Am J Kidney Dis. 2004;43:14–290
- Seventh report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure. Hypertension. 2003;42:1206–1252
- Angiotensin-converting enzyme inhibitors and progression of nondiabetic renal disease—a meta-analysis of patient-level data. Ann Int Med. 2001;135:73–87
- Randomised placebo-controlled trial of effect of ramipril on decline in glomerular filtration rate and risk of terminal renal failure in proteinuric, non-diabetic nephropathy. Lancet. 1997;349:1857–1863
- Efficacy and safety of benazepril for advanced chronic renal insufficiency. N Engl J Med. 2006;354:131–140
- Angiotensin-converting enzyme inhibitor or angiotensin II type 1 receptor antagonist therapy is associated with prolonged patient and graft survival after renal transplantation. J Am Soc Nephrol. 2006;17:889–899
- Incidence and clinical significance of human parvovirus B19 infection in kidney transplant recipients. Clin Transplant. 2005;19:751–755
- . Kinetic compartmental analysis of carnitine metabolism in the human carnitine deficiency syndromes—evidence for alterations in tissue carnitine transport. J Clin Invest. 1984;73:857–867
- . Carnitine deficiency in lysinuric protein intolerance—lysine-sparing effect of carnitine. Tohoku J Exp Med. 1987;153:331–334
- . Hypocarnitinemia in lysinuric protein intolerance. Mol Genet Metab. 2002;76:81–83
- . Dialysis-related carnitine disorder and levocarnitine pharmacology. Am J Kidney Dis. 2003;41:S13–S26
- Pharmacokinetics of L-carnitine in patients with end-stage renal disease undergoing long-term hemodialysis. Clin Pharmacol Ther. 2000;68:238–249
- . L-carnitine treatment of anemia. Am J Kidney Dis. 2003;41:S27–S34
- . Practice recommendations for the use of L-carnitine in dialysis-related carnitine disorder—National Kidney Foundation carnitine consensus conference. Am J Kidney Dis. 2003;41:868–876
- Prevalence and causes of low bone density and fractures in kidney transplant patients. J Bone Miner Res. 2001;16:1863–1870
- . Rapid loss of vertebral mineral density after renal transplantation. N Engl J Med. 1991;325:544–550
- . Skeletal manifestations of lysinuric protein intolerance—a follow-up study of 29 patients. Skeletal Radiol. 1993;22:11–16
- . Osteoporosis in lysinuric protein intolerance. J Inherit Metab Dis. 1993;16:441–450
- . Hyperlipidemia in patients with chronic renal disease. Am J Kidney Dis. 1998;32:S142–S156
- . Hazards associated with pregnancies and deliveries in lysinuric protein intolerance. Metabolism. 2006;55:224–231
Supported by the European Genomics Initiative on Disorders of Plasma Membrane Amino Acid Transporters (EUGINDAT) and the Sigrid Juselius Foundation.
PII: S0022-3476(07)00118-7
doi: 10.1016/j.jpeds.2007.01.043
© 2007 Mosby, Inc. All rights reserved.
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The Journal of Pediatrics
Volume 150, Issue 6
, Pages 631-634.e1
, June 2007
