ArticleClinical kidney journal2015
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics.
Article in Clinical kidney journal, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 59 citations in OpenAlex.
- Familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN16/CLDN19 mutations in four Chinese families.Scientific reports · 2026Article
- Recurrent Nephrolithiasis and Beyond: The Long Diagnostic Odyssey of a Case of CLDN16 Mutation.Clinical case reports · 2025Article
- Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis in a 7-Year-Old Girl: A Case Report.Clinical case reports · 2025Article
- Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype.PLoS genetics · 2025Article
- A narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.Nephrology (Carlton, Vic.) · 2024Review
- Association of urinary calcium excretion with chronic kidney disease in patients with type 2 diabetes.International urology and nephrology · 2024Article
- Insight into prevalence, etiology, and modalities of pediatric chronic dialysis: a comprehensive nationwide analysis.Pediatric nephrology (Berlin, Germany) · 2024Article
- Monogenic features of urolithiasis: A comprehensive review.Asian journal of urology · 2024Review
- Anti-inflammatory effects of bay laurel (Food science & nutrition · 2024Article
- Urinary Acidification Does Not Explain the Absence of Nephrocalcinosis in a Mouse Model of Familial Hypomagnesaemia with Hypercalciuria and Nephrocalcinosis (FHHNC).International journal of molecular sciences · 2024Article
- Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Family.Calcified tissue international · 2024Article
- Research progress on renal calculus associate with inborn error of metabolism.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Review
- Severe hypocalcaemia episodes in a patient of primary hypoparathyroidism precipitated by underlying stress due to haemophagocytic lymphohistiocytosis (HLH) secondary to pulmonary tuberculosis.BMJ case reports · 2023Article
- The genetics of kidney stone disease and nephrocalcinosis.Nature reviews. Nephrology · 2022Review
- The F11 Receptor (F11R)/Junctional Adhesion Molecule-A (JAM-A) (F11R/JAM-A) in cancer progression.Molecular and cellular biochemistry · 2022Review
- Hereditary kidney diseases associated with hypomagnesemia.Kidney research and clinical practice · 2021Article
- Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.Pediatric nephrology (Berlin, Germany) · 2021Review
- Incidental chronic kidney disease in an obese child with high myopia: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- Crosstalk between Renal and Vascular Calcium Signaling: The Link between Nephrolithiasis and Vascular Calcification.International journal of molecular sciences · 2021Review
- Recurrent urinary tract infection and nephrocalcinosis: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
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1 author at 1 institution in 1 country.
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Abstract
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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