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Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).
Biomarker and diagnostic research for familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis.
129 publications have been identified in PubMed for familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis. Research spans Review / Meta-Analysis (67%), Basic Science / Preclinical (16%), and Case Report / Case Series (7%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 86 | 67% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 2:38 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
20 |
16% |
Patient case studies | 9 | 7% |
Disease patterns and progression | 7 | 5% |
Other research | 4 | 3% |
Testing and diagnosis research | 2 | 2% |
Clinical study results | 1 | 1% |
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Alsubaie H (2026). [PMID: 41203986](https://pubmed.ncbi.nlm.nih.gov/41203986/). *Pediatr Nephrol*. [Epidemiology / Natural History]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Basic Science / Preclinical]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Wang F (2025). [PMID: 40826740](https://pubmed.ncbi.nlm.nih.gov/40826740/). *Medicine (Baltimore)*. [Case Report / Case Series]
Sakuma H (2025). [PMID: 39143740](https://pubmed.ncbi.nlm.nih.gov/39143740/). *Dev Med Child Neurol*. [Review / Meta-Analysis]
Karuntu JS (2025). [PMID: 39733931](https://pubmed.ncbi.nlm.nih.gov/39733931/). *Prog Retin Eye Res*. [Review / Meta-Analysis]
Gencer NS (2025). [PMID: 41291504](https://pubmed.ncbi.nlm.nih.gov/41291504/). *BMC Geriatr*. [Epidemiology / Natural History]
Van't Hoff C (2025). [PMID: 41308001](https://pubmed.ncbi.nlm.nih.gov/41308001/). *J Frailty Aging*. [Review / Meta-Analysis]
Cornejo-Sanchez DM (2025). [PMID: 40055553](https://pubmed.ncbi.nlm.nih.gov/40055553/). *Eur J Hum Genet*. [Basic Science / Preclinical]
AI-curated news mentioning familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Updated Aug 24, 2026
A novel variant in the CLDN19 gene has been identified as a cause of familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) with ocular involvement. This discovery enhances understanding of the genetic basis of this rare condition.