Nancy E. Vinton

Macrocytosis and pseudoalbinism: Manifestations of selenium deficiency

Selenium levels were low in four children receiving long-term total parenteral nutrition (TPN) who developed erythrocyte macrocytosis (3/4), loss of pigmentation of hair and skin (2/4), elevated transaminase and creatine kinase activities (2/4), and profound muscle weakness (1/4). Initial mean selenium levels in serum and hair were 38 +/- 11 (SEM) ng/mL and 0.34 +/- 0.13 micrograms/g, respectively. Mean serum vitamin B12, folate, and vitamin E levels were normal. Intravenous supplementation with selenium was begun daily at 2 micrograms/kg/day. After 3 to 6 months, serum selenium levels rose almost threefold to 81 +/- 22 ng/mL. During this same time, erythrocyte mean corpuscular volume fell from 115 +/- 8 fL to 88 +/- 7 fL in the three children with macrocytosis. After 6 to 12 months of supplementation, hair selenium content had increased threefold to 1.02 +/- 0.19 micrograms/g. The two children with decreased pigmentation became darker skinned and their hair color changed from blonde to dark brown; a third childs hair, which had been blonde, also became darker. Transaminase and creatine kinase activities returned to near normal in those affected and, in the one child with severe myopathy, muscle weakness improved. Erythrocyte macrocytosis and loss of skin and hair pigmentation are previously undescribed manifestations of selenium deficiency. We recommend routine supplementation of TPN solution with selenium to avoid the clinical and biochemical syndrome of selenium deficiency in patients receiving long-term TPN.

Symptomatic Helicobacter pylori infection in young patients with severe neurologic impairment

Helicobacter pylori infection was identified in five patients with profound neurologic impairment who were undergoing evaluation for gastrointestinal symptoms, and it was subsequently identified in 7 of 61 patients with symptoms whose condition was evaluated prospectively. Institutionalized patients were at greater risk of infection. Treatment of H. pylori infection resulted in symptomatic improvement for the majority of patients.

ANTIBODY MEDIATED RENAL TUBULAR DYSFUNCTION IN SJORGRENS SYNDROME (SS): EVIDENCE FOR TRANSPLANCENTAL TRANSFER OF IgG ANTIBODIES REACTIVE WITH RENAL TUBULAR CELL (RTC) ANTIGENS

Renal tubular dysfunction (type I- renal tubular acidosis (RTA) renal failure concentrating defects and Fanconi Syndrome) has been described with SS, but the mechanism(s) responsible are unclear. We describe a patient with SS, type I-RTA, renal failure and a concentrating defect who delivered an 1860 gm female infant.Shortly after birth the neonate exhibited polyuria, a concentrating defect and type I RTA.Using a panel of 5 normal kidney targets, indirect immunofluorescence (IF) and immunoperoxidase (IP) analysis of serum samples obtained from the infant revealed IgG antibodies reactive with RTC antigens and TBM. Similar antibody reactivity against the target kidneys was noted in the mothers serum, but IgM>IgG. Test sera also showed reactivity with normal human salivary gland. At age 10 weeks the infant is thriving, off all medications, and has normal electrolyte values. Repeat IF and IP analysis of serum is negative for pathogenic antibodies. These studies strongly suggest that the transient renal tubular dysfunction was mediated by transplancentally transferred IgG reactive with neonatal RTCs. This thesis is supported by the disappearance of disease concident with disappearnace of pathogenic maternal IgG from the infants serum.