**4. Conclusions**

Monogenic causes of nephrocalcinosis account for a rare set of conditions with a low population frequency. However, the clinical course for affected patients is very different depending on their underlying genotype. Accurate, prompt diagnosis allows early initiation of conservative measures, which in some cases can halt nephrocalcinosis or delay progression of renal impairment. Establishing the underlying genetic mutation also allows accurate prognostic information to be given and can help facilitate screening of other family members. As our understanding of these rare inherited conditions increases, it is hoped further treatment targets that address underlying enzymatic/protein defects will emerge. However, at present for the majority of cases treatment strategies focus upon supportive treatments to correct biochemical parameters, and careful monitoring of disease progression.

**Funding:** This research received no external funding. **Conflicts of Interest:** The authors declare no conflict of interest.







1ESRD = End stage renal disease, 2 HCINF1 = Hypercalcemia, idiopathic, of infancy type 1, 3 AR = Autosomal Recessive, 4 HCINF2 = Hypercalcaemia, idiopathic, of infancy type 2, 5 FHHNC = Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis, 6 CKD = Chronic kidney disease, 7 BSND = Bartter Syndrome, Neonatal, with Sensorineural Deafness, 8 AD = Autosomal Dominant, 9 Distal RTA = distal renal tubular acidosis.
