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Pediatric Nephrology
Published in: Pediatric Nephrology 1/2017

01-01-2017 | Clinical Quiz

An unusual case of renal failure: Answers

Authors: Alison Ma, Rukshana Shroff, Stephen D. Marks

Published in: Pediatric Nephrology | Issue 1/2017

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Excerpt

1.
Soft tissue swelling at the proximal inter-phalangeal joint of the index finger.
 
2.
The serum urate of this baby was markedly elevated to 1440 (normal 80–290) μmol/l. In the presence of hyperuricaemia and acute kidney injury (AKI), the most likely diagnosis is Lesch–Nyhan syndrome.
 
3.
Hypoxanthine–guanine–phosphoribosyl-transferase (HPRT) test. HPRT enzyme is vital for the normal purine salvage pathway function. Varying degrees of residual HPRT activities are associated with the different phenotypes.
 
4.
The cause of AKI in Lesch–Nyhan syndrome is precipitation and deposition of uric acid crystals that obstruct urine flow, particularly at the distal nephron of the kidneys. Dehydration and extracellular volume depletion may further aggravate the situation by increasing the concentration of uric acid in the tubular fluid and urine. Therefore, primary management consisted of cautious rehydration of the patient. The drug of choice to manage hyperuricaemia associated with HRPT deficiency is allopurinol.
 
…
Literature
1.
Jones DP, Chesney RW (1999) Tubular function. In: Barrat TM, Avner ED, Harmon WE (eds) Paediatric nephrology, 2nd edn. Lippinocott Williams & Wilkins, Philadelphia, pp 59–82
2.
3.
Pela I, Donati MA, Procopio E, Fiorini P (2008) Lesch–Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn. Pediatr Nephrol 23(1):155–158
4.
Cherian S, Crompton CH (2005) Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure. Pediatr Nephrol 20(12):1811–1813CrossRefPubMed
5.
Jenkins EA, Hallett RJ, Hull RG (1994) Lesch–Nyhan syndrome presenting with renal insufficiency in infancy and transient neonatal hypothyroidism. Br J Rheumatol 33(4):392–396
6.
Gasperini S, Stagi S, Gasperini U, Guerrrnin R, La Marca G, Donati MA (2010) Orange-colored diapers as first sign of Lesch–Nyhan disease in an asymptomatic infant. Pediatr Nephrol 25(11):2373–2374
7.
Sikora P, Pijanowsaka M, Majewski M, Bienias B, Borzecka H, Zajaczkowska M (2006) Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch–Nyhan syndrome. Pediatr Nephrol 21(7):1045–1047
8.
Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JEM, Schretlen DJ, Verdu A, Larovere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, Dodelson de Kremer R, Nyhan W, Harris JC, Reich SG, Puih JG (2010) Attenuated variants of Lesch–Nyhan disease. Brain 133:671–689
Metadata
Title
An unusual case of renal failure: Answers
Authors
Alison Ma
Rukshana Shroff
Stephen D. Marks
Publication date
01-01-2017
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 1/2017
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-015-3300-6

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