Renal dysplasia in a Limousin calf

Castro, Márcio Botelho de; Szabó, Matias Pablo Juán; Ferreira, Wagner Luis; Pereira, Adriano Alves

doi:10.1590/s0102-09352007000200037

Cited by 5 publications

(5 citation statements)

References 7 publications

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“…Interestingly, the literature quotes other cases of RD in calves which were not related to mutations of the CLDN16 gene (Dunham and others 1989, Castro and others 2007, Sugiyama and others 2007, Philbey and others 2009) but none of them showed the complete overlapping observed in this study, especially referring to the overgrowth of the hooves.…”

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confidence: 51%

“…In human medicine, RD is one of the principal causes of childhood end‐stage renal failure. In veterinary medicine, it has been described in several species, including cattle (Dunham and others 1989, Simon and others 1999, Ohba and others 2001, Castro and others 2007, Maxie and Newman 2007, Aresu and others 2009, Philbey and others 2009). In Japanese Black cattle, RD shows autosomal recessive inheritance, caused by CLDN16 mutations (Hirano and others 2000, Ohba and others 2000, Hirano and others 2002).…”

Section: Figurementioning

confidence: 99%

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Renal dysplasia in grey Alpine breed cattle unrelated to CLDN16 mutations

et al. 2012

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confidence: 51%

Section: Figurementioning

confidence: 99%

Renal dysplasia in grey Alpine breed cattle unrelated to CLDN16 mutations

et al. 2012

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“…Other macroscopical features also lead to confusion: e.g. deformity or overgrowth of hooves have been previously reported in cases of renal dysplasia in cattle [6, 10]. In papers describing xanthinuria in cattle, it was not possible to find reports of overgrown hooves [14, 15], but such features could be an indicator of a general sign of renal failure (along with poor growth) and not of a specific disease.…”

Section: Resultsmentioning

confidence: 99%

A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle

Murgiano

Jagannathan

Piffer³

et al. 2016

BMC Vet Res

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BackgroundRenal syndromes are occasionally reported in domestic animals. Two identical twin Tyrolean Grey calves exhibited weight loss, skeletal abnormalities and delayed development associated with kidney abnormalities and formation of uroliths. These signs resembled inherited renal tubular dysplasia found in Japanese Black cattle which is associated with mutations in the claudin 16 gene. Despite demonstrating striking phenotypic similarities, no obvious presence of pathogenic variants of this candidate gene were found. Therefore further analysis was required to decipher the genetic etiology of the condition.ResultsThe family history of the cases suggested the possibility of an autosomal recessive inheritance. Homozygosity mapping combined with sequencing of the whole genome of one case detected two associated non-synonymous private coding variants: A homozygous missense variant in the uncharacterized KIAA2026 gene (g.39038055C > G; c.926C > G), located in a 15 Mb sized region of homozygosity on BTA 8; and a homozygous 1 bp deletion in the molybdenum cofactor sulfurase (MOCOS) gene (g.21222030delC; c.1881delG and c.1782delG), located in an 11 Mb region of homozygosity on BTA 24. Pathogenic variants in MOCOS have previously been associated with inherited metabolic syndromes and xanthinuria in different species including Japanese Black cattle. Genotyping of two additional clinically suspicious cases confirmed the association with the MOCOS variant, as both animals had a homozygous mutant genotype and did not show the variant KIAA2026 allele. The identified genomic deletion is predicted to be highly disruptive, creating a frameshift and premature termination of translation, resulting in severely truncated MOCOS proteins that lack two functionally essential domains. The variant MOCOS allele was absent from cattle of other breeds and approximately 4% carriers were detected among more than 1200 genotyped Tyrolean Grey cattle. Biochemical urolith analysis of one case revealed the presence of approximately 95% xanthine.ConclusionsThe identified MOCOS loss of function variant is highly likely to cause the renal syndrome in the affected animals. The results suggest that the phenotypic features of the renal syndrome were related to an early onset form of xanthinuria, which is highly likely to lead to the progressive defects. The identification of the candidate causative mutation thus enables selection against this pathogenic variant in Tyrolean Grey cattle.Electronic supplementary materialThe online version of this article (doi:10.1186/s12917-016-0904-4) contains supplementary material, which is available to authorized users.

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“…Increased primitive mesenchymal matrix which is AB-positive and MTC-negative has been described as a feature of dysplastic kidneys in other species including rodents 42 and domestic animals. 30,35,39,43 In the aplastic kidney, the increased cortical and medullary interstitial matrix stained positive for MTC and VMTN but was negative to minimal for AB indicative of mature collagenous connective tissue. However, the prominent matrix collars that surrounded Bowman’s capsules in the affected kidney stained positive for a mixture of markers (MTC, AB, α-SMA, and VMTN), indicating that the matrix tissue was not fully differentiated and undergoing mesenchymal-myocyte transformation.…”

Section: Discussionmentioning

confidence: 99%

“…Other spontaneous congenital anomalies have been reported in cynomolgus ( Macaca fascicularis ) and/or rhesus ( Macaca mulatta ) macaques but at a low frequency: a few cases of spontaneous renal dysplasia, 22,24,25 several cases of spontaneous congenital polycystic kidney disease, 17,26 -28 and single cases of hypoplasia, double ureter, renal ectasia, and unilateral cystic kidney. 22,29 Spontaneous renal dysplasia has been reported relatively frequently in many species 8,11,14,30,31,32,33,34,35 -37,38,39,40 -42,43,44 and is known to be familial/inherited in some species. 33,34,37,19,44 Multiple genetic syndromes have been associated with renal malformations in humans, but the specific gene defect is only known for some conditions, whereas the genetic mutations responsible for the majority of human renal dysplasia cases remain unknown.…”

Section: Introductionmentioning

confidence: 99%

Congenital Unilateral Renal Aplasia in a Cynomolgus Monkey (Macaca fascicularis) With Investigation Into Potential Pathogenesis

et al. 2020

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We describe and characterize unilateral renal aplasia in a cynomolgus monkey ( Macaca fascicularis) from a chronic toxicology study adding to the limited histopathology reports of congenital renal anomalies in macaques. In the current case, the affected kidney was macroscopically small and characterized microscopically by a thin cortex with an underdeveloped medulla and an absent papilla. The remnant medulla lacked a corticomedullary junction and contained only a few irregular collecting duct-like structures. The cortex had extensive interstitial mature collagen deposition with fibromuscular collar formation around Bowman’s capsules. Due to parenchymal collapse, mature glomeruli were condensed together with occasional atrophic and sclerotic glomeruli. The majority of the cortical tubules were poorly differentiated with only small islands of fully developed cortical tubules present. Histochemical and immunohistochemical stains were utilized to demonstrate key diagnostic features of this congenital defect, to assist with differentiating it from renal dysplasia, and to provide potential mechanistic pathways. Immunostaining (S100, paired box gene 2 [PAX2], aquaporins) of the medulla was compatible with incomplete maturation associated with aplasia, while the immunostaining profile for the cortex (vimentin, calbindin, PAX2-positive cortical tubules, and smooth muscle actin–positive fibromuscular collars) was most compatible with dedifferentiation secondary to degenerative changes.

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Renal dysplasia in a Limousin calf

Cited by 5 publications

References 7 publications

Renal dysplasia in grey Alpine breed cattle unrelated to CLDN16 mutations

Renal dysplasia in grey Alpine breed cattle unrelated to CLDN16 mutations

A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle

Congenital Unilateral Renal Aplasia in a Cynomolgus Monkey (Macaca fascicularis) With Investigation Into Potential Pathogenesis

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