Hypomagnesemia 5, renal, with ocular involvement
Hypomagnesemia, renal, with ocular involvement, Hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement, Fhhnc with severe ocular involvement, Macular coloboma, bilateral, with hypercalciuria
Type of disease: Rare conditions
Renal hypomagnesemia 5 is a genetic condition of low magnesium levels in the blood. Magnesium is a natural part of the makeup of blood and a mineral that our body relies on for important biological reactions. Not having enough of it can cause bad health effects. Scientists believe this condition occurs due to a change on the CLDN19 gene that can be passed down from parents to child. Two copies of the gene, one from each parent, are needed to have the condition.
This condition first becomes noticeable in childhood with frequent urinary tract infections, watery urine (polyuria), and excessive thirst (polydipsia). Some other common symptoms include tremors, seizures, vision changes where eyes make repetitive and uncontrolled movements (nystagmus), and rarely cardiac arrest. Due to a lack of magnesium in the blood, calcium may build up in the kidneys, and if unmanaged, may lead to kidney failure.
A doctor may diagnose renal hypomagnesemia 5 through a physical exam, family history, and/or a genetic test. Some common treatments may include magnesium supplementation, shifts in diet to include more magnesium-rich foods, and medications for more severe cases. If you have been diagnosed with renal hypomagnesemia 5, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.