Laurence Finberg

Rickets with alopecia: An inborn error of vitaminD metabolism

Rickets with alopecia, an inborn error of vitamin D metabolism, is described in two sisters. The rachitic disorder began during the first year of life and was refractory to 50,000 IU of vitamin D2/day. Surprisingly, both children had marked elevations in serum concentrations of 1,25-(OH)2D. Although the molecular basis for this disorder is not evident to date, intestinal end-organ unresponsiveness to exceedingly high levels of 1,25-(OH)2D was present, in addition to hyporesponsiveness of bone to these high levels of the hormone, since normocalcemia was maintained despite elevated serum levels of PTH. Therapy with oral 1,25-(OH)2D3 failed to reverse the disorder, but oral phosphorus supplements resulted in significant radiographic and clinical improvement.

Single-day therapy for nutritional vitamin D-deficiency rickets: A preferred method

A single-day large dose of vitamin D (stosstherapy) was given to 42 patients with nutritional vitamin D-deficiency rickets. Stosstherapy is safe and effective, obviates problems with compliance, and, by evoking a response in 4 to 7 days in nutritional rickets, becomes a valuable diagnostic aid for patients in whom initial findings do not clearly distinguish nutritional rickets from familial hypophosphatemic rickets.

Pseudomonas infections in infants associated with high-humidity environments

Summary Coincident with increased usage of high-humidity atmospheres in the care of newborn infants, thirteen infants with Ps. aeruginosa infections were noted in the premature nursery. The occurrence of such infections was believed to be primarily related to the increased use of such environments. Emphasis is made on the need for early suspicion and recognition of Ps. aeruginosa as the etiological agent of infection in infants who have been subjected to mist atmospheres.

Inorganic phosphate (laxative) poisoning resulting in tetany in an infant

Summary We present here a case of inorganic phosphate ingestion causing acute hypocalcemia, hyperphosphatemia, and tetany in a 3 1/2-month-old infant. Symptoms were quickly relieved by the intravenous administration of calcium, and the patients serum levels returned to normal levels within 24 hours. This case adds another example to the vast variety of poisonings by ingestion and serves to alert the emergency room physician to the possibility of phosphate ingestion when confronted with tetany of obscure etiology.

25-hydroxycholecalciferol in the management of rickets associated with extrahepatic biliary atresia

In children with extrahepatic biliary atresia, impaired hydroxylation and defective intestinal absorption of cholecalciferol may lead to a deficiency of vitamin D and rickets. The data presented herein demonstrate that in such patients serum levels of vitamin D measured as 25-hydroxycalciferol are reduced. A moderate therapeutic oral dose of 25-hydroxycholecalciferol, by circumventing the hepatic conversion of cholecalciferol to 25-hydroxycholecalciferol, will replete vitamin D stores and maintain the serum concentration of 25-hydroxycalciferol required to prevent or heal rickets in these patients.

Clinical Review: Improving the Clinical Management of Hypernatremic Dehydration Observations from a Study of 67 Infants with This Disorder

From The Department of Pediatrics, Montefiore Hospital and Medical Center, and The Albert Einstein College of Medicine, 111 East 210th Street, The Bronx, New York 10467. Correspondence to: Warren N. Rosenfeld, M.D., Department of Pediatrics, University of Kansas Medical Center, 39th and Rainbow Boulevard, Kansas City, Kansas 66103. SINCE THE ORIGINAL DESCRIPTION of hypernatremic dehydration over 25 years ago, our understanding of the pathogenesis and therapy of hypernatremia has led to a great reduction in the morbidity and mortality associated with this disorder. The unique fluid and osmolar changes make this entity more difficult to recognize and treat clinically than the more common isotonic dehydration. In hypernatremic dehydration, the loss of hypotonic fluids from the extracellular space results in a relative rise in extracellular ions (Fig. 1 }. ’ Sodium is the main extracellular cation, and serum sodium concentrations may ‘

Galactokinase deficiency presenting as pseudotumor cerebri

DISTURBANCES in galactose metabolism from deficiency of the enzyme galactose uridyl transferase may cause cataracts and liver and brain damage. The more recently discovered deficiency of galactokinase has been thought to be a benign condition other than causing cataracts. A 2-month-old female infant presented with a picture of pseudotumor cerebri, cataracts, and a urinary reducing substance. She was found to be deficient in galactokinase and was fed a lactose-free formula with improvement in the physical abnormalities. It appears that galactokinase-de ficient galactosemia may not be as benign as previously supposed.

Serum magnesium in children with cirrhosis

Summary The presence of hyopmagnesemia related to the secondary hyperaldosteronism of cirrhosis was confirmed in 15 children and adolescents. Normomagnesemic levels returned in 6 of 7 patients treated with an aldosterone antagonist. The implications of such a response to therapy and of the progression from normal to low serum magnesium levels are discussed.

SINGLE SOLUTION FOR ORAL THERAPY OF DIARRHŒA

Questions about the suitability of a single oral electrolyte solution containing 90 mmol/liter of sodium for rehydration therapy in diarrhea are raised because of the possibility of repeating the experience of 30 years ago in the U.S. when widespread use of electrolyte solutions and commercial milk preparations resulted in the so-called era of hypertonicity. Given that most diarrhea cases requiring rehydration occur in developing countries where nutrition is questionable and given that even in developing countries hypernatremia occurs too frequently, the letter writers argue that the single formulation of an oral therapy solution may be ill-advised. Studies on oral fluid therapy have been carried out in children over 2 years of age in developing countries, and it was found that children with underlying hypertonicity secondary to high solute artificial feedings were pushed to the fringe of their extracellular-volume and renal-function tolerances. The letter writers argue for further studies of the suitability of such a high sodium concentration in the electrolyte solution and feel that a mixture with a lower sodium concentration in the under 2 age group in developing countries is more suitable.

Abnormal Antidiuretic Hormone Secretion in Patients with Systemic Lupus erythematosus

There have been anecdotal reports describing patients with systemic lupus erythematosus (SLE) and inappropriately elevated secretion of antidiuretic hormone (ADH), but no systematic studies of ADH and its metabolism in SLE have been performed. We measured plasma ADH levels in 36 stable SLE patients with normal renal function and examined the relationship of the circulating ADH concentration to clinical disease activity and effective extracellular fluid volume as reflected by peripheral plasma renin activity (PRA) and plasma aldosterone concentration. The mean ADH level was elevated, 11.4 +/- 1.0 microU/ml (normal 0.4-1.4 microU/ml), while mean PRA and aldosterone were 5.4 +/- 0.6 ng/ml/h and 10.6 +/- 1.6 ng/100 ml, respectively. When patients were divided into two groups according to disease duration, those with SLE for 2 years or more had significantly higher plasma ADH levels (13.9 +/- 1.4 vs. 7.7 +/- 0.9 microU/ml; p less than 0.001 and urinary osmolality (697 +/- 63 vs. 445 +/- 49 mosm/kg; p less than 0.02) compared to those with SLE of less than 2 years duration. No differences in serum Na+, K+, PRA, plasma aldosterone concentration, C3, or 24-hour urinary protein excretion were noted between these two groups. Six patients with SLE for less than 2 years underwent a standard water load (20 ml/kg); in 3/6 there was a paradoxical increase in the plasma ADH concentration. These findings indicate that SLE is associated with elevated plasma ADH levels that increase with prolonged disease duration. This abnormality is unrelated to the usual serologic indices of SLE activity, effective extracellular fluid volume status, or any apparent renal unresponsiveness to ADH.(ABSTRACT TRUNCATED AT 250 WORDS)