Nina Olas Kar
Klinični oddelek za nefrologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Tanja Kersnik Levart
Klinični oddelek za nefrologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Abstract

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder. It is characterized by renal wasting of magnesium and calcium, associated with the development of nephrocalcnosis and renal stones in early childhood. FHHNC is a rare cause of nephrocalcinosis and/or kidney stones and should be considered when encountered in small child since it progressively and irreversibly leads to chronic kidney disease and end stage kidney failure no later then in the second or third decade of life. With agressive therapy which is exclusively symptomatic and includes fluid, dietary restrictions, potassium citrate and magnesium supplemention, progression to an end stage kindney disease could be postoponed.

Key words: nephrocalcinosis, hypercalciuria, hypomagnesemia