Classical xanthinuria: a rare cause of pediatric urolithiasis

Akıncı, Nurver; Çakıl, Adviye; Öner, Ayşe

doi:10.5152/tud.2013.066

Cited by 10 publications

(6 citation statements)

References 8 publications

(18 reference statements)

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“…In humans, two-thirds of classical xanthinuria cases are male 36 and in dogs, xanthinuria has been reported in males in 62.5% of cases. 11 In cats, reported cases of xanthinuria are infrequent and show an even sex distribution.…”

Section: Discussionmentioning

confidence: 99%

Xanthinuria in a familial group of Munchkin cats and an unrelated domestic shorthair cat

Pritchard,

Haase,

Wall

et al. 2024

Journal of Feline Medicine and Surgery

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Case series summary Four confirmed cases of xanthinuria in cats, and one suspected case based on pedigree analysis, were identified. Clinical presentations varied and included haematuria, pollakiuria, dysuria, and urethral and ureteral obstruction. All cats had upper urinary tract uroliths. Diagnosis was obtained through infrared mass spectrometry of uroliths or urine. Clinical signs commenced at 3–8 months of age and reduced in all cats in the medium to long term after the introduction of a protein-restricted diet. Four cats were castrated males and one was a spayed female. Cases consisted of four Munchkin pedigree cats and one unrelated domestic shorthair cat. All four affected Munchkin pedigree cats were related, with three cases full siblings and the fourth case a half-sibling. No connection to the Munchkin pedigree could be established for the domestic shorthair cat. A candidate causative genetic variant ( XDH p.A681V) proposed for this cat was excluded in the Munchkin family. Relevance and novel information All affected cats presented diagnostic challenges and routine urinalysis was insufficient to obtain a diagnosis. Cases of feline xanthinuria may be underdiagnosed due to situations where uroliths cannot be retrieved for analysis and there is an inability to make a diagnosis using crystal morphology alone on routine urinalysis. Metabolic screening of urine may provide an effective mechanism to confirm xanthinuria in suspected cases where uroliths are inaccessible or absent. In this case series, male cats were more common. Their anatomy may increase the risk of lower urinary tract signs and urethral obstruction developing secondary to xanthine urolithiasis. A protein-restricted diet appears to reduce clinical signs as part of long-term management. Plain language summary Four closely related Munchkin cats and one domestic shorthair cat were found with a suspected genetic disease causing high levels of xanthine in their urine. The case series looks at similarities and differences in their clinical signs, as well as difficulties experienced in obtaining a correct diagnosis. All cats had upper urinary tract stones and required metabolic testing of the stones or urine to diagnose. All cats were young when their clinical signs started and were on a high-protein diet. Four cats were desexed males and one was a desexed female. A genetic variant that may have caused the disease in the domestic shorthair cat was ruled out in the Munchkin family. Cases of high xanthine levels in feline urine may be underdiagnosed as the stones may not be accessed for testing. In this case series, male cats were more common. Their anatomy may increase the risk of lower urinary tract signs. A protein-restricted diet appears to reduce clinical signs as part of long-term management.

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Section: Discussionmentioning

confidence: 99%

Xanthinuria in a familial group of Munchkin cats and an unrelated domestic shorthair cat

Pritchard,

Haase,

Wall

et al. 2024

Journal of Feline Medicine and Surgery

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“…The clinical implication of this variant would be difficult to interpret (Ahmeti et al, 2013). The HLoF noted in MOCOS can be explained by later age of onset and report of several asymptomatic individuals with xanthinuria, Type II (Akıncı et al, 2013). In one family with HLoF in PLA2G6 , possibility of blended phenotype of PLA2G6 related neurodegeneration and Omenn syndrome could not be ruled out as the proband succumbed at the age of 4 months.…”

Section: Discussionmentioning

confidence: 99%

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

et al. 2021

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Given the genomic uniqueness, a local data set is most desired for Indians, who are underrepresented in existing public databases. We hypothesize patients with rare monogenic disorders and their family members can provide a reliable source of common variants in the population. Exome sequencing (ES) data from families with rare Mendelian disorders was aggregated from five centers in India. The dataset was refined by excluding related individuals and removing the disease‐causing variants (refined cohort). The efficiency of these data sets was assessed in a new set of 50 exomes against gnomAD and GenomeAsia. Our original cohort comprised 1455 individuals from 1203 families. The refined cohort had 836 unrelated individuals that retained 1,251,064 variants with 181,125 population‐specific and 489,618 common variants. The allele frequencies from our cohort helped to define 97,609 rare variants in gnomAD and 44,520 rare variants in GenomeAsia as common variants in our population. Our variant dataset provided an additional 1.7% and 0.1% efficiency for prioritizing heterozygous and homozygous variants respectively for rare monogenic disorders. We observed additional 19 genes/human knockouts. We list carrier frequency for 142 recessive disorders. This is a large and useful resource of exonic variants for Indians. Despite limitations, datasets from patients are efficient tools for variant prioritization in a resource‐limited setting.

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“…olmamasına ve idrarda atılan total oksipürin miktarının yarısını oluşturmasına rağmen, allopürinol tedavisi sırasında yan etki olarak ksantin taşlarının oluşumu görülebilir. 15…”

Section: Allopüri̇nolunclassified

“…Ksantin-ürik asit metabolik yolağında tip I (-) ve tip II (=) ksantinüri ayrımı. AMF: Adenozin monofosfat; İMF: İnozin monofosfat; GMF: Guanozin monofosfat; FRPF: 5-fosforibozilpirofosfat; ATF: Adenozin trifosfat 15.…”

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