Renal Fanconi Syndrome with Ultrastructural Defects in Lysinuric Protein Intolerance Benninga, M A; Lilien, M; De Koning, T

University of Groningen

Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance Benninga, M A; Lilien, M; de Koning, T. J.; Duran, M; Versteegh, F G A; Goldschmeding, R; Poll-The, B T Published in: Journal of Inherited Metabolic Disease

DOI: 10.1007/s10545-007-0446-9

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Publication date: 2007

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Citation for published version (APA): Benninga, M. A., Lilien, M., de Koning, T. J., Duran, M., Versteegh, F. G. A., Goldschmeding, R., & Poll- The, B. T. (2007). Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance. Journal of Inherited Metabolic Disease, 30(3), 402-3. https://doi.org/10.1007/s10545-007-0446-9

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SHORT REPORT

Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance

M. A. Benninga & M. Lilien & T. J. de Koning & M. Duran & F. G. A. Versteegh & R. Goldschmeding & B. T. Poll-The

Received: 8 August 2006 /Submitted in revised form: 6 March 2007 /Accepted: 7 March 2007 /Published online: 19 May 2007 # SSIEM and Springer 2007 Online citation: JIMD Short Report #052 (2007) Online

Summary Renal Fanconi syndrome developed rapidly (normal <70 mmol/L), ferritin 159 mmol/L (normal 2– in a 3-year-old Moroccan girl with established lysinuric 59 mmol/L), LDH 1180 U/L (normal 26–534 U/L). LPI protein intolerance. She was hospitalized because of was diagnosed based on the findings of reduced plasma lowered consciousness, uncoordinated movements and ornithine, arginine and lysine, and an increased level of hepatosplenomegaly after a febrile period. Laboratory glutamine. Urinary orotic acid (645 mmol/mmol creat- investigations revealed plasma ammonia 270 mmol/L inine; normal <3.6) was strongly increased. A defect in the SLC7A7 amino acid transporter was established (homozygous c.726G>A mutation). Detailed renal Communicating editor: Mike Gibson function tests including an acid challenge test, bicar- M. A. Benninga bonate loading, and tubular maximal reabsorption of Academic Medical Center, Department of Paediatric glucose showed complex tubular dysfunction. No Gastroenterology and Nutrition, Emma Children_s Hospital, Amsterdam, The Netherlands evidence of respiratory chain defects was found in muscle or kidney tissue. No morphological abnormal- M. Lilien ities were demonstrated in the mitochondria. Ultra- Department of Nephrology, University Children_s Hospital structural analysis of proximal tubular cells showed Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands vacuolization and sloughing of the apical brush border T. J. de Koning (Fig. 1). Renal involvement in LPI has only been Department of Metabolic Diseases, University Children_s described in a few reports; however, no detailed Hospital Wilhelmina Kinderziekenhuis, studies of the renal acidification mechanism were Utrecht, The Netherlands performed. Our patient had evidence of a full-blown M. Duran : B. T. Poll-The (*) Fanconi syndrome. Surprisingly, a metabolic acidosis Academic Medical Center, Department of Metabolic was found with a moderately increased serum anion Diseases and Pediatrics, Emma Children_s Hospital, gap combined with repeatedly normal plasma organic Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands e-mail: [email protected] acid values. This finding is in contrast with the diagnosis of renal tubular acidosis. Patients with F. G. A. Versteegh hyperlysinaemia have a similar heavy load on the Groene Hart Ziekenhuis, Department of Paediatrics, renal tubules; they never develop a renal Fanconi Gouda, The Netherlands syndrome. Therefore, we consider the intratubular R. Goldschmeding accumulation of lysine an unlikely candidate for the University Medical Center Utrecht, development of the renal Fanconi syndrome. Department of Pathology, Utrecht, The Netherlands Electronic Supplementary Material The online version of this article (doi:10.1007/s10545-007-0446-9) contains supplementary material, which is available to authorized users. J Inherit Metab Dis (2007) 30:402–403 403

Fig. 1 Left panel shows irregular and partially absent brush (biopsy taken in remission phase of idiopathic nephritic syn- border in the patient with LPI. The panel on the right shows the drome). Note also that in this normal specimen the villi are regular brush border architecture in a patient of the same age longer than in the patient with LPI