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Familial Hypomagnesemia-A Follow-Up Examination of Three Patients After 9 to 12 Years of Treatment

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Familial Hypomagnesemia-A Follow-Up Examination of Three Patients After 9 to 12 Years of Treatment Pediatr. Res. 15: 1 134-1 139 (198 1) calcitonin parathyroid hormone calcium potassium hypomagnesemia sodium magnesium vitamin D Familial Hypomagnesemia-A Follow-Up Examination of Three Patients After 9 to 12 Years of Treatment JOtiAN H. STRQMME."" JON STEEN-JOHNSEN. KRISTIAN HARNAES. FRIDJAR HOFSTAD. AND PETTER BRANDTZAEG Deparrmenr of Clinical Chemisty /J. H. S.] and Pediatric Deparrmenr [P. B.], U1leva"l Hospital. Oslo. Norwq,., and Pediarric Deparrmenrs of Telemark (J. S-J.),Ostfold [K.H.]. and Oppland (Gjgvik) [F. H.] Couny Nospiral, Norwav Summary age of 4 wk. The development during the first 18 months has been rGorted previously (28j. He was treated daily with oral magne- Three children with familial hypomagnesemia from infancy were sium lactate powder until 12 years of age, followed by a magne- treated perorally with magnesium for 9 to 12 years. Their somatic sium sulphate mixture (0.75 mmoles/kg.day). He has developed and intellectual development have since been normal. Without normally without convulsions. His serum magnesium has consist- therapy, the serum magnesium fell from subnormal (about 0.5 ently been subnormal: 0.5 to 0.6 mmoles/liter. mmoles/liter) to very low values (0.2 to 0.3 mmoles/liter) within T. B., born 8/16/67, was the second child of healthy, noncon- 1 to 4 wk. We observed a secondary fall in serum calcium and sanguineous parents. He was born at term after a normal preg- potassium and an increase in sodium and phosphate although nancy and delivery. Symptoms of hypomagnesemia appeared at serum concentrations of PTH, calcitonin, and 25-OH-vitamin D the age of 3 wk. The course through infancy has previously been in the blood remained normal. Balance studies confirmed the reported (32). From the fourth wk of life, he received daily presence of a defect in the intestinal absorption of magnesium and supplements of magnesium lactate solution. This was changed at excluded a defective renal tubular transport system. The subjects 2 years of age to a magnesium sulphate mixture (0.75 mmoles/kg. continued to require daily magnesium supplements to avoid serious day). Despite this medication, his magnesium has been subnormal symptoms. Optimal dosage was found to be in the range 0.5 to (0.5 to 0.6 mmoles/liter). On two occasions when the supplements 0.75 mmoles/kg*day; doses above this caused diarrhoea and a fall were temporarily discontinued, the serum magnesium fell to 0.3 in the serum and urine levels of magnesium. Pathophysiologic mmoles/liter. His development has been normal, and neither mechanisms involved in the electrolyte changes that occurred convulsions nor muscular irritability has occurred. Frequently, he secondarily to the hypomagnesemia are discussed. has had loose stools. In 1966, an older sibling died at the age of 7 wk after prolonged Speculation hypocalcemic convulsions which were resistant to calcium therapy. The pathophysiologic basis for the impaired intestinal absorp A subsequent pregnancy in 1976 ended in a spontaneous abortion tion of magnesium in this condition is unknown. In fact, the at 20 wk of gestation. mechanism by which magnesium is normally transported across K. T. born 2/23/69, was the fourth child of nonconsanguineous, membranes is also largely unknown. A facilitated transport mech- healthy parents. Their first child was a boy who died at 8 wk. He anism seems to be involved. It appears reasonable to believe that had failed to thrive and had muscular weakness but no convul- errors in enzymes. or perhaps more likely, in specific magnesium- sions. Two younger brothers are healthy. binding proteins that are involved in the membrane transport form The patient was born 2 wk preterm with a birth weight of 2830 the molecular basis for familial hypomagnesemia. g and a length of 50 cm. He was breastfed and progressed normally for the first month. He then had several short fits characterized by stiffness and opisthotonus. The symtoms subsided after adminis- Familial hypomagnesemia was first described in 1965 (23). tration of phenobarbital but reappeared 5 days later. Hypomag- Subsequently, a total of 18 cases have been reported (2,4,6, 7, 10, nesemia and hypocalcemia were then detected. Treatment was 13, 15, 19, 23, 24, 26, 28, 30, 31, 32, 34, 37). In addition, five older initiated with parenteral and later with oral magnesium. Balance siblings of these index cases died with a clinical picture consistent studies at 3 months of age, performed as previously described (32). with familial hypomagnesemia, but without a verified diagnosis showed a net intestinal absorption of magnesium of 18%, but a (Table I). The usual age of onset was 2 to 4 wk; however, two normal absorption of calcium (48% of intake) and phosphate (59% women first became symptomatic during adulthood. This type of of intake). Seventy-eight percent of a single oral load of "'SrClr congenital primary hypomagnesemia appears to be due to a (2 pCi) was absorbed, suggesting a normal absorption of strontium. specific defect in the intestinal absorption of magnesium (28, 32). Magnesium supplementation was initially given as lactate powder For 9 to 12 years, we have followed three children with familial and later as a sulphate mixture (0.50 mmoles/kg.day). Apart from hypomagnesemia diagnosed during infancy. In the absence of occasional loose stools, he has been asymptomatic but with sub- data from long-term follow-up studies, we have reviewed our normal serum magnesium levels (0.5 to 0.6 mmoles/liter). His subjects as to their growth and development and evaluated their development has been normal. need for extra magnesium supplementation and the degree of homeostatic lability. OUTPATIENT STUDIES (38) SUBJECTS AND METHODS During the first part of the study, the subjects were treated with standardized doses of oral magnesium supplements (0.75 mmoles/ SUBJECTS kg-day) for 4 wk. Then the magnesium therapy was discontinued, and the subjects were reviewed at weekly intervals. If clinical M. M., born 6/11/66, was the first child of healthy, nonconsan- symptoms or signs appeared or the serum magnesium dropped guineous parents. Symptoms of hypomagnesemia appeared at the below 0.3 mmole/liter, the therapy was resumed in a stepwise 1 FAMILIAL HYPOMAGNES~E$IA 1135 fashion. Initially, 0.25 mmole/kg.day was given. When a steady liter) ando casionally intramuscularly dissolved in water (I mole/ state was reached. usually after 3 to 4 wk, another 0.25 mmole/kg- liter). day was added. The oral supplementation was thus increased in increments of 0.25 mmole/kg.day until diarrhoea occurred and/ I LABORATORY METHODS or the serum magnesium began to fall. VariouSd ematologic parameters. electrolytes, and small-molec- INPATIENT STUDIES (38) ular components, proteins, amino acids, and enzymes were mea- sured by cdnventiona~methods. Magnesium, calcium. and zinc The subsequent investigation was performed in the hospital. were assay by atomic absorption spectrophotometry, Ionized Apart from a clinical and extensive biochemical examination, this calcium determined in serum (anaerobically handled) using comprised a balance study lasting 7 days during which time the an electrode (F 21 12 Ca; Calcium Selectrode, Radi- dietary intake as well as the fecal and urinary excretion of mag- Immunoreactive parathyroid hormone was nesium. calcium, sodium. potassium, phosphate, and nitrogen determined (39) by a C-terminal specific radioimmunoassay as were quantitated. Carmine red served as marker of intestinal recently des1; ribed by Gautvik et al. (12). Antisera from rooster passage. A peroral load of "%strontium chloride (The Radiochem- which was raised against bovine parathyroid hormone (PTH) and ical Center, Ammersham, England) was given to examine the which croksqreacted with human hormone was used as antibody, intestinal absorption of this metal. Magnesium supplementation and 12"I-labeled purified bovine PTH was used as tracer. The was discontinued 2 wk (M. M. and K. T.) and 5 days (T. B.) wk before the balance studies. Magnesium was administered thera- peutically as sulphate, usually perorally as a mixture (0.5 mole/ Magnesium Table 1. Familial hypomagnesemia' No. of patients Age at onset Probable of symptoms Sex Verified (on history) (wk) Male 12 (1)' 4 (4) 2-30 Female 6 (0) l(1) 3-adult:' ' Number of patients reported in the literature (for references see the text). Numbers in parentheses, number of deaths. "Two were adults, the other five were below 8 wk of age. E 0 .... .... ..... C . 25:OH-"it D- 0 .... ,do g -20 ..... - 2 .... , . ..... -.. .... .... 300 - u \ w +d ffl E -60 -20 -6 +d I u w Days C - +5 . +2 T +2 w ... u ranges. c w "- Table 2. Inre final absorption (percentage of intake) of elecrrolvres 0 -5 and nitrdg 1n in the three patients (M. M., T. B.. and K. T.? - 2 * -2 1 Patient Mean Flrst test per~od Component M. M. T. B. K. T. (q) Magnesium -1 22 19 13 Second test period Calcium -4 28 3 1 I8 I ' Fig. I. Difference in levels of serum electrolytes (magnesium, calcium. Phosphate 34 59 64 52 89 99 99 94 potassium. phosphate, sodium. and osmolality) during periods without l1 magnesium therapy compared to those found while on therapy. The Sodium 97 99 99 98 differences are expressed in percent of the values found during treatment. Nitrogen 89 93 94 92 They are given as mean values of the three patients (columns) and ranges 18 21 13 17 (brackets). Values from both the outpatient examination (open columns) studies over 7 days. During this period the three (serum values found immediately before restarting as compared to those diet, which was found to give an average daily before stopping therapy; Figs. 3 to 5) and from the hospital examination intake of ma$ne/sium from 7.5 to 10.5 mmoles.
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