IMPE2023 ePoster Presentations Bone, Growth Plate and Mineral Metabolism (11 abstracts)
Hereditary Hypomagnesemia with Secondary Hypocalcemia: A Case series from India
Shagun Walia , Sudha Rao , Shreya Sharma , Poorvi Agarwal , Prachi Karia , Rachna Keshwani , Amrita Mehta & Rajesh Joshi
Bai Jerbai Wadia Hospital for Children, Mumbai, India
Introduction: Familial hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disorder of magnesium homeostasis that presents with refractory seizures in infancy.
Objectives: This study aims to characterize the demographic profile, clinico-laboratory characteristics and management of children diagnosed as familial hypomagnesemia over last 10years.
Methods: Retrospective analysis of medical records of 10 cases diagnosed as HSH in the last decade for the presentation characteristics, laboratory parameters, genetic mutations if available, details of medical management and short-term outcome as a descriptive study.
Results: Ten children, 7 Male, were diagnosed with HSH at a median age of 8 month (range 2 month to 16 years). One child had manifest tetany and others presented with seizures. Eight children were born of consanguineous marriage. Serum calcium, serum magnesium levels were low in all cases (Table1) Mutation studies done in 4 children (case no.4,6,8,9) was positive for TRMP6 mutation. All cases responded to oral magnesium supplementation and were seizure free on follow up.
| CASE No. | S.Ca (mg/dl) (N: 8.5-10.5) | S. Mg (mg/dl) (N: 1.5-2.5) | iPTH (pg/ml) (N:10-68) | FeMg (%) (N:<4%) | 25OHD (ng/ml) (N:20- 50) | Oral Magnesium supplementation (mg/kd/day) | Serum Mg on replacement (mg/dl) (N: 1.5-2.5) |
| 1 | 6.4 | 0.1 | 7.9 | 10.2 | 35.8 | 76 | 1.7 |
| 2 | 6.5 | 0.5 | 22 | 11.6 | 48 | 40 | 1.6 |
| 3 | 3.9 | 1.4 | 19.4 | 11.2 | 26 | 25-80 | NA |
| 4 | 7.2 | 0.7 | 15 | 6.5 | 61.6 | 62 | 1.8 |
| 5 | 5 | 1.1 | 60 | 15.8 | 45 | 45 | NA |
| 6 | 9.1 | 0.2 | 1.31 | 6.7 | 31.8 | 100 | 1.7 |
| 7 | 5.5 | 0.3 | 14.1 | 1.5 | 37.8 | 80 | 1.9 |
| 8 | 5.8 | 0.3 | 12.69 | >15.5 | 25.3 | 105 | 1.3 |
| 9 | 3.1 | 1.4 | 15.2 | 11.2 | 23 | 90 | 1.8 |
| 10 | 6.6 | 0.34 | 6.9 | 6.7 | 20.9 | 80 | 3.2 |
| *FeMg: Fractional excretion of Magnesium | |||||||
Conclusion: Early diagnosis of hereditary hypomagnesemia is critical to prevent neurological morbidity in affected children Treatment is easy and oral magnesium has a good tolerability profile.
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