Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules

Faller, Nicolas; Dhayat, Nasser; Fuster, Daniel

doi:10.1007/s00240-018-1097-z

Cited by 10 publications

(7 citation statements)

References 141 publications

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“…More than 30 genes have been reported to be with the etiology of nephrolithiasis [ 4 ]. Two-thirds of the genes currently known to be associated with nephrolithiasis coding for membrane proteins or enzymes involved in renal tubular transport [ 23 ]. The TALH and connecting tubules (CNT) have a central role in maintenance of fluid, electrolytes and acid-base homeostasis.…”

Section: Discussionmentioning

confidence: 99%

A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis

et al. 2022

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Nephrolithiasis is not common in children, but the incidence is gradually increased in these years. Urinary tract malformations, urinary infection, dietary habits, geographic region and genetic factor are involved in the etiology of nephrolithiasis. For the affected child, it is especially important to elucidate the etiology, which may provide an accurate diagnosis, a personalized therapy and effective follow-up strategy. Here to seek the etiology of a ten-year-old boy incidentally found with nephrolithiasis, next generation sequencing (NGS) including a panel with 248 genes involved in hereditary kidney diseases was performed for the boy and identified two mutations of KCNJ1, c.89G > A (p.C30Y) and c.65G > T (p.R22M), and the later was a novel missense mutation originated from his father. The child was confirmed with type II Bartter syndrome (BS) caused by KCNJ1 mutations. Our study suggests that BS may be difficult to get diagnosed at an early stage based on clinical manifestations or biochemical laboratory tests, and NGS is an efficient way to determine the etiology and provide further treatment and guide fertility counseling for the affected family.

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Section: Discussionmentioning

confidence: 99%

A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis

et al. 2022

View full text Add to dashboard Cite

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“…More than 30 genes have been reported to be with the etiology of nephrolithiasis 4 . Two-thirds of the genes currently known to be associated with nephrolithiasis coding for membrane proteins or enzymes involved in renal tubular transport 21 . The TALH and connecting tubules (CNT) have a central role in maintenance of uid, electrolytes and acid-base homeostasis.…”

Section: Discussionmentioning

confidence: 99%

A Novel Mutation of KCNJ1 Identified in an Affected Child with Nephrolithiasis

Yang

Shi

et al. 2022

Preprint

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Nephrolithiasis is not common in children, but the incidence is gradually increased in these years. Urinary tract malformations, urinary infection, dietary habits, geographic region and genetic factor are involved in the etiology of nephrolithiasis. For the affected child, it is especially important to elucidate the etiology, which may provide an accurate diagnosis, a personalized therapy and effective follow-up strategy. Here to seek the etiology of a ten-year old boy incidentally found with nephrolithiasis, next generation sequencing (NGS) including a panel with 248 genes involved in hereditary kidney diseases was performed for the boy and identified two mutations of KCNJ1, c.89G>A (p.C30Y) and c.65G>T (p.R22M), and the later was a novel missense mutation originated from his father. The child was confirmed with type II Bartter syndrome (BS) caused by KCNJ1 mutations. Our study suggests that BS may be difficult to get diagnosed at early stage based on clinical manifestations or biochemical laboratory tests, and NGS is an efficient way to determine the etiology and provide further treatment and guide fertility counselling for the affected family.

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“…Nephrolithiasis has been reported in 25 to 42% of patients and progressive chronic kidney disease (CKD) leads to end-stage renal disease (ESRD) in considerable part of patients. 2,3 Introduction Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare disorder caused by perturbation in renal reabsorption of magnesium and calcium. Biallelic pathogenic variants either in gene CLDN16 or CLDN19 are responsible for molecular defects.…”

Section: Introductionmentioning

confidence: 99%

Familial Hypomagnesemia with Hypercalciuria, Nephrocalcinosis, and Bilateral Chorioretinal Atrophy in a Patient with Homozygous p.G75S Variant in CLDN19

et al. 2021

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Introduction Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare disorder caused by perturbation in renal reabsorption of magnesium and calcium. Biallelic pathogenic variants either in gene CLDN16 or CLDN19 are responsible for molecular defects. Most patients with CLDN19 variants have been associated with ocular involvements (FHHNCOI). Patient and Methods We had a pediatric patient with hypercalciuric hypomagnesemia and bilateral chorioretinal atrophy. Metabolic profiling and radiology examinations were performed, in addition to whole exome sequencing (WES) used for detection of the causative variant. Results Analysis of WES revealed a homozygous c.223G > A (p.G75S) variant in CLDN19. MutationTaster and Combined Annotation-Dependent Depletion support its deleterious effect and SHERLOC's criteria put it in pathogenic category. This variant is previously reported in compound heterozygous state with other known pathogenic variant. As far as we know, it is the first report of this variant in homozygous state. Conclusion The variant found in our patient is pathogenic and compatible with FHHNCOI characteristics. WES is an advantageous tool in molecular diagnosis and finding genetic pathology of this disease. In line with other reports, ocular abnormalities are variable in patients with CLDN19 mutations, and chronic kidney disease and retinal damages must be considered in this group.

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Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules

Cited by 10 publications

References 141 publications

A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis

A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis

A Novel Mutation of KCNJ1 Identified in an Affected Child with Nephrolithiasis

Familial Hypomagnesemia with Hypercalciuria, Nephrocalcinosis, and Bilateral Chorioretinal Atrophy in a Patient with Homozygous p.G75S Variant in CLDN19

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