A Rare Cause of Hematuria in a Bangladeshi Infant: Hereditary Xanthinuria Hereditary Xanthinuria
Journal of Pediatric Nephrology,
Vol. 13 No. 1 (2025),
12 May 2026
https://doi.org/10.22037/jpn.v13i1.49650
Abstract
Background and Aim: Hematuria in an infant is not very uncommon. Nephrocalcinosis
and renal stones frequently cause hematuria and urinary tract infections in early infancy.
Furthermore, xanthinuria is a rare metabolic disorder that can lead to the abnormal
accumulation of xanthine, resulting in nephrocalcinosis and the subsequent formation
of renal stones. It is an autosomal recessive genetic disorder caused by a lack of xanthine
dehydrogenase, which breaks down hypoxanthine and xanthine into uric acid in the final two
steps of the purine degradation process. Only a few instances have been noted worldwide.
Furthermore, pediatric xanthinuria has never been reported from Bangladesh.
Case Presentation: Herein, we discussed a 2-month-old male infant who had symptoms of
excessive crying during micturition and microscopic hematuria, later diagnosed as a case of
xanthinuria type 1.
Conclusion: Hereditary xanthinuria may present with hematuria and nephrocalcinosis.
Confirmation by genetic testing is useful for identifying the type of hereditary xanthinuria
and predicting the outcomes.
- Hematuria
- Nephrocalcinosis
- Hereditary
- Xanthinuria
How to Cite
References
[1] Park E, Kim SW, Kim SJ, Baek M, Ahn YH, Cho MH, et al.
Hematuria in children: Causes and evaluation. Child Kidney
Dis. 2024; 28(2):66-73. [DOI:10.3339/ckd.24.010]
[2] Mechler K, Mountford WK, Hoffmann GF, Ries M. Ultraorphan
diseases: A quantitative analysis of the natural history
of molybdenum cofactor deficiency. Genet Med. 2015;
17(12):965-70. [DOI:10.1038/gim.2015.12] [PMID]
[3] Ichida K, Amaya Y, Okamoto K, Nishino T. Mutations associated
with functional disorder of xanthine oxidoreductase
and hereditary xanthinuria in humans. Int J Mol Sci 2012;
13(11):15475-95. [DOI:10.3390/ijms131115475] [PMID]
[4] Peretz H, Naamati MS, Levartovsky D, Lagziel A, Shani E,
Horn I, et al. Identification and characterization- tion of the
first mutation (Arg776Cys) in the C-terminal domain of the
Human Molybdenum Cofactor Sul- furase (HMCS) associated
with type II classical xanthinuria. Mol Genet Metab. 2007;
91(1):23-29. [DOI:10.1016/j.ymgme.2007.02.005] [PMID]
[5] Habbig S, Beck BB, Hoppe B. Nephrocalcinosis and urolithiasis
in children. Kidney Int. 2011; 80(12):1278-91. DOI:10.1038/
ki.2011.336] [PMID]
[6] Mateos FA, Puig JG, Jimenez ML, Fox IH. Hereditary xanthinuria:
Evidence for enhanced hypoxanthine salvage. J Clin
Invest. 1987; 79(3):847-52. [DOI:10.1172/JCI112893 PMID:
3818951] [PMID]
[7] Sawant S, Waydande A, Shinde A, Natha Mhaske S. Xanthinuria:
A rare case report. Int J Sci Healthcare Res. 2023;
8(3):394-8. [DOI:10.52403/ijshr.20230353]
[8] Nagae A, Murakami E, Hiwada K, Sato Y, Kawachi M, Kono
N. Asymptomatic hereditary xanthinuria: A case report.
Jpn J Med. 1990; 29(3):287-91. [DOI:10.2169/internalmedicine1962.29.287]
[PMID]
[9] Umair M, Hussain SZ, Khan A, Murtaza B, Rehman OF,
Nawaz M. Pure xanthine pediatric urolithiasis: A cause
of acute renal failure. Urol Case Rep. 2020; 34:101438.
[DOI:10.1016/j.eucr.2020.101438] [PMID]
[10] Grases F, Costa-Bauza A, Roig J, Rodriguez A. Xanthine
urolithiasis: Inhibitors of xanthine crystallization. Plos One.
2018; 13(8):e0198881 [DOI:10.1371/journal.pone.0198881]
[PMID]
[11] López M, Hoppe B. History, epidemiology and regional
diversities of urolithiasis. Pediatr Nephrol 2010; 25(1):49-59.
[DOI:10.1007/s00467-008-0960-5] [PMID]
[12] Miake J, Hisatome I, Tomita K, Isoyama T, Sugihara S, Kuwabara
M, et al. Impact of hyper- and hypo-uricemia on kidney
function. Biomedicines. 2023; 11(5):1258. [DOI:10.3390/
biomedicines11051258] [PMID]
- Abstract Viewed: 54 times
- pdf Downloaded: 8 times