Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
CLDN16
CLDN19
Claudin
FHHNC
Hypomagnesemia-hypercalciuria-nephrocalcinosis
Macular colobomata
Tight junctions
Journal
Pediatric nephrology (Berlin, Germany)
ISSN: 1432-198X
Titre abrégé: Pediatr Nephrol
Pays: Germany
ID NLM: 8708728
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
received:
22
09
2020
accepted:
25
01
2021
revised:
14
01
2021
pubmed:
18
2
2021
medline:
3
3
2022
entrez:
17
2
2021
Statut:
ppublish
Résumé
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC; OMIM 248250) is a rare autosomal recessive kidney disease caused by mutations in the CLDN16 or CLDN19 genes encoding the proteins claudin-16 and claudin-19, respectively. These are involved in paracellular magnesium and calcium transport in the thick ascending limb of Henle's loop and account for most of the magnesium reabsorption in the tubules. FHHNC is characterized by hypomagnesaemia, hypercalciuria, and nephrocalcinosis, and progresses to kidney failure, requiring dialysis and kidney transplantation mainly during the second to third decades of life. Patients carrying CLDN19 mutations frequently exhibit associated congenital ocular defects leading to variable visual impairment. Despite this severe clinical course, phenotype variability even among siblings has been described in this disease, suggesting unidentified epigenetic mechanisms or other genetic or environmental modifiers. Currently, there is no specific therapy for FHHNC. Supportive treatment with high fluid intake and dietary restrictions, as well as magnesium salts, thiazides, and citrate, are commonly used in an attempt to retard the progression of kidney failure. A kidney transplant remains the only curative option for kidney failure in these patients. In this review, we summarize the current knowledge about FHHNC and discuss the remaining open questions about this disorder.
Identifiants
pubmed: 33595712
doi: 10.1007/s00467-021-04968-2
pii: 10.1007/s00467-021-04968-2
doi:
Substances chimiques
Claudins
0
Magnesium
I38ZP9992A
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
3045-3055Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2021. IPNA.
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