Renal Dysplasia Unrelated to Claudin-16 Deficiency in Japanese Black Cattle

Sugiyama, Akihiko; Ozaki, Kiyokazu; Miyazaki,; Tanabe, Yusuke; Takeuchi, Tōru; Narama, Isao

doi:10.1016/j.jcpa.2007.03.006

Cited by 10 publications

(3 citation statements)

References 11 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.…”

mentioning

confidence: 51%

Renal dysplasia in grey Alpine breed cattle unrelated to CLDN16 mutations

et al. 2012

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confidence: 51%

Renal dysplasia in grey Alpine breed cattle unrelated to CLDN16 mutations

et al. 2012

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“…Unfortunately, no equivalent data are available for humans. However, we can speculate that the early onset of ESRD may result from abnormal renal development complicated by fibrosis and nephrocalcinosis (19). How can we account for the difference in renal outcome between patients with CLDN16 and CLDN19 mutations without differences in BP or protein excretion?…”

Section: Discussionmentioning

confidence: 99%

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

Godron¹,

Harambat²,

Boccio³

et al. 2012

Clinical Journal of the American Society of Nephrology

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SummaryBackground and objectives Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal tubular disease. It is caused by mutations in CLDN16 and CLDN19, encoding claudin-16 and -19, respectively. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is usually complicated by progressive CKD. The objectives of this study were to describe the clinical and genetic features of familial hypomagnesemia with hypercalciuria and nephrocalcinosis and analyze phenotype-genotype associations in patients with CLDN16 or CLDN19 mutations.Design, setting, participants, & measurements Data from 32 genetically confirmed patients (9 patients with CLDN16 and 23 patients with CLDN19 mutations) from 26 unrelated families were retrospectively reviewed.Results Diagnosis was based on clinical criteria at a median age of 9.5 years and confirmed by genetic testing at a median age of 15.5 years. In total, 13 CLDN16 or CLDN19 mutations were identified, including 8 novel mutations. A founder effect was detected for the recurrent CLDN16 p.Ala139Val mutation in North African families and the CLDN19 p.Gly20Asp mutation in Spanish and French families. CKD was more frequently observed in patients with CLDN19 mutations: survival without CKD or ESRD was 56% at 20 years of age in CLDN19 versus 100% in CLDN16 mutations (log rank P,0.01). Ocular abnormalities were observed in 91% of patients with CLDN19 mutations and none of the patients with CLDN16 mutations (P,0.01). Treatments seem to have no effect on hypercalciuria and CKD progression.Conclusions Patients with CLDN19 mutations may display more severe renal impairment than patients with CLDN16 mutations. Ocular abnormalities were observed only in patients with CLDN19 mutations.

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“…This is supported by the phenotype of Japanese Black cattle with homozygous claudin-16 gene deletions, which shows renal failure due to interstitial nephritis [ 80 , 81 ]. Nevertheless, another study argues that renal dysplasia may be unrelated to the absence of claudin-16 in cattle [ 82 ].…”

Section: Pathophysiologymentioning

confidence: 99%

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics

Claverie-Martı́n

2015

Clin Kidney J

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Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal-recessive renal tubular disorder characterized by excessive urinary losses of magnesium and calcium, bilateral nephrocalcinosis and progressive chronic renal failure. Presentation with FHHNC symptoms generally occurs early in childhood or before adolescence. At present, the only therapeutic option is supportive and consists of oral magnesium supplementation and thiazide diuretics. However, neither treatment seems to have a significant effect on the levels of serum magnesium or urine calcium or on the decline of renal function. In end-stage renal disease patients, renal transplantation is the only effective approach. This rare disease is caused by mutations in the CLDN16 or CLDN19 genes. Patients with mutations in CLDN19 also present severe ocular abnormalities such as myopia, nystagmus and macular colobamata. CLDN16 and CLDN19 encode the tight-junction proteins claudin-16 and claudin-19, respectively, which are expressed in the thick ascending limb of Henle's loop and form an essential complex for the paracellular reabsorption of magnesium and calcium. Claudin-19 is also expressed in retinal epithelium and peripheral neurons. Research studies using mouse and cell models have generated significant advances on the understanding of the pathophysiology of FHHNC. A recent finding has established that another member of the claudin family, claudin-14, plays a key regulatory role in paracellular cation reabsorption by inhibiting the claudin-16–claudin-19 complex. Furthermore, several studies on the molecular and cellular consequences of disease-causing CLDN16 and CLDN19 mutations have provided critical information for the development of potential therapeutic strategies.

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Renal Dysplasia Unrelated to Claudin-16 Deficiency in Japanese Black Cattle

Cited by 10 publications

References 11 publications

Renal dysplasia in grey Alpine breed cattle unrelated to CLDN16 mutations

Renal dysplasia in grey Alpine breed cattle unrelated to CLDN16 mutations

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics

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