Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure

Pediatric Nephrology

Volumn 23, Issue 2, 2008, Pages 317-321

  Wong, Hubert ^a   Feber, Janusz ^a   Chakraborty, Pranesh ^a   Drukker, Alfred ^b   Filler, Guido ^c  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b SHAARE ZEDEK MEDICAL CENTER   (Israel)

^c CHILDREN S HOSPITAL OF WESTERN ONTARIO   (Canada)

Author keywords

Acute; Bicarbonate peritoneal dialysis treatment; Gout nephropathy; Hypoxanthine guanine phosphoribosyl transferase deficiency (new point mutation); Lesch Nyhan syndrome; Neonate; Non oliguric renal failure

Indexed keywords

ALLOPURINOL; ASPARAGINE; BICARBONATE; DIALYSIS FLUID; DIANEAL; GLYCINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LACTIC ACID;

ACUTE KIDNEY FAILURE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CODON; ENZYME ACTIVITY; FOLLOW UP; GLOMERULUS; HEMOLYSIS; HUMAN; HUMAN TISSUE; HYPERKALEMIA; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY FUNCTION; LESCH NYHAN SYNDROME; MALE; NEWBORN; OLIGURIA; PERITONEAL DIALYSIS; POINT MUTATION; PRIORITY JOURNAL; RENOGRAPHY; UREMIA;

ALLOPURINOL; COMBINED MODALITY THERAPY; FOLLOW-UP STUDIES; GOUT SUPPRESSANTS; HEMODIALYSIS SOLUTIONS; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; INFANT, NEWBORN; KIDNEY; KIDNEY FAILURE, ACUTE; LESCH-NYHAN SYNDROME; MALE; PERITONEAL DIALYSIS; POINT MUTATION; TREATMENT OUTCOME;

EID: 38349054194     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-007-0612-1     Document Type: Article

References (23)

1. Online Mendelian Inheritance in Man. Lesch-Nyhan Syndrome. Entry #300322. Available at http://www.ncbi.nlm.nih.gov/htbin-post/Omim/ dispmim?300322
2. Jinnah HA, Friedman T (2001) Lesch-Nyhan disease and its variants. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 8th edn. McGraw-Hill, New York, NY, pp 2571-2584
3. Simmonds HA, Cameron JS (1989) Purine enzyme defects as a cause of acute renal failure in childhood. Pediatr Nephrol 3:433-437
4. Grivna M, Prusa R, Janda J (1997) Urinary uric acid excretion in healthy male infants. Pediatr Nephrol 11:623-624
5. Tsukahara H, Hiraoka M, Kuriyama M, Saito M, Morikawa K, Kuroda M, Tominaga T, Sudo M (1993) Urinary alpha 1-microglobulin as an index of proximal tubular function in early infancy. Pediatr Nephrol 7:199-201
6. Filler G, Lepage N (2003) Should the Schwartz formula for estimation of GFR be replaced by cystatin C formula? Pediatr Nephrol 18:981-985
7. Nyhan WL, Oliver WJ, Lesch M (1965) A familial disorder of uric acid metabolism and central nervous system function II. J Pediatr 67:257-263
8. Holland P, Dillon M, Pincott J, Simmonds A, Barratt T (1983) Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy. Arch Dis Child 58:831-833
9. Wingen AM, Loffler W, Waldherr R, Scharer K (1985) Acute renal failure in an infant with partial deficiency of hypoxanthine guanine phosphoribosyltransferase. Proc Eur Dial Transplant Assoc Eur Ren Assoc 21:751-755
10. Ludman CN, Dicks-Mireaux C, Saunders AJ (1992) Renal ultrasonographic appearances at presentation in an infant with Lesch-Nyhan syndrome. Br J Radiol 65:724-725
11. Batch JA, Riek RP, Gordon RB, Burke JR, Emmerson BT (1984) Renal failure in Infancy due to overproduction of urate. Aust N Z J Med 14:852-854
12. Lorentz W, Burton B, Trillo A, Browning M (1984) Failure to thrive, hyperuricemia and renal insufficiency in early infancy secondary to partial hypoxanthine- guanine phosphoribosyl transferase deficiency. J Pediatr 104:94-97
13. Marcus S, Christensen E, Malm G (1993) Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome. Hum Mutat 2:473-77
14. Jenkins EA, Hallett RJ, Hull RG (1994) Lesch-Nyhan syndrome presenting with renal insufficiency in infancy and transient neonatal hypothyroidism. Br J Rheumatol 33:392-396
15. Hui-Stickle S, Brewer ED, Goldstein SL (2005) Pediatric ARF epidemiology at a tertiary care center from 1999 to 2001. Am J Kidney Dis 45:96-101
16. Williams DM, Sreedhar SS, Mickell JJ, Chan JC (2002) Acute kidney failure: A pediatric experience over 20 years. Arch Pediatr Adolesc Med 156:893-900
17. Rinat C, Zoref-Shani E, Ben-Neriah Z, Bromberg Y, Becker-Cohen R, Feinstein S, Sperling O, Frishberg Y (2006) Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease. Mol Genet Metab 87:249-252
18. Fischbach M, Terzic J, Chauve S, Laugel V, Muller A, Haraldsson B (2004) Effect of peritoneal dialysis fluid composition on peritoneal area available for exchange in children. Nephrol Dial Transplant 19:925-932
19. Nau B, Schmitt CP, Almeida M, Arbeiter K, Ardissino G, Bonzel KE, Edefonti A, Fischbach M, Haluany K, Misselwitz J, Kemper MJ, Ronnholm K, Wygoda S, Schaefer F, European Pediatric Peritoneal Dialysis Study Group (2004) BIOKID: Randomized controlled trial comparing bicarbonate and lactate buffer in biocompatible peritoneal dialysis solutions in children. BMC Nephrol 5:14
20. Knochel JP, Mason AD (1966) Effect of alkalinization on peritoneal diffusion of uric acid. Am J Physiol 210:1160-1164
21. Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP (2000) The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res 463:309-326
22. Duan J, Nilsson L, Lambert B (2004) Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus. Hum Mutat 23:599-611
23. Nyhan WL (2005) Lesch-Nyhan disease. J Hist Neurosci 14:1-10