Familial Hypomagnesemia-Hypercalciuria with Nephrocalcinosis with Severe Myopia and Horse Shoe Kidney
Abdulkarim S Almakadma
Department of Pediatrics. KFMC-Childrens Hospital, Riyadh
Abstract

Many disorders of hypomagnesemia or renal origin are now recognized. Familial Hypomagnesemia, Hypercalciuria and Nephrocalcinosis is one of them. Few patients with this disorder were described in the literatures. The cases of two sisters from a consanguineous marriage with this syndrome are presented. Bilateral nephrocalcinosis in both of them was observed; interestingly one of them has a horse shoe kidney. The Glomerular Filtration Rate in both of them is decreased. The urinary calcium and magnesium were high in both of them where urinary excretion of uric acid and oxalate were normal. Serum magnesium was low in both of them (0.2-0.4 mmol/L) whereas serum calcium, phosphorus and potassium were normal. Serum Parathormone levels were abnormally high. Ophthalmological examination revealed that they have severe myopia with no other eye abnormalities.
Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.