1.
Distal renal tubular acidosis and severe hypokalemia: a case report and review of the literature.
Vasquez-Rios, G, Westrich, DJ, Philip, I, Edwards, JC, Shieh, S
Journal of medical case reports. 2019;(1):103
Abstract
BACKGROUND Distal renal tubular acidosis is a relatively infrequent condition with complex pathophysiology that can present with life-threatening electrolyte abnormalities. CASE PRESENTATION We describe a case of a 57-year-old Caucasian woman with previous episodes of hypokalemia, severe muscle weakness, and fatigue. Upon further questioning, symptoms of dry eye and dry mouth became evident. Initial evaluation revealed hyperchloremic metabolic acidosis, severe hypokalemia, persistent alkaline urine, and a positive urinary anion gap, suggestive of distal renal tubular acidosis. Additional laboratory workup and renal biopsy led to the diagnosis of primary Sjögren's syndrome with associated acute tubulointerstitial nephritis. After potassium and bicarbonate supplementation, immunomodulatory therapy with hydroxychloroquine, azathioprine, and prednisone was started. Nonetheless, her renal function failed to improve and remained steady with an estimated glomerular filtration rate of 42 ml/min/1.73 m2. The literature on this topic was reviewed. CONCLUSIONS Cases of renal tubular acidosis should be carefully evaluated to prevent adverse complications, uncover a potentially treatable condition, and prevent the progression to chronic kidney disease. Repeated episodes of unexplained hypokalemia could be an important clue for diagnosis.
2.
Selenium: a brief review and a case report of selenium responsive cardiomyopathy.
Al-Matary, A, Hussain, M, Ali, J
BMC pediatrics. 2013;:39
Abstract
BACKGROUND The authors review the role of selenium and highlight possible low selenium levels in soil that may result in deficient states in Saudi Arabia. CASE PRESENTATION The authors report a case of selenium-responsive cardiomyopathy in a 15-month old Saudi Arabian boy. This case of selenium deficiency causing dilated cardiomyopathy is presented with failure to thrive, prolonged fever and respiratory distress. The investigations revealed selenium deficiency. Selenium supplementation along with anti-failure therapy [Furosimide, Captopril] was administered for 6 months. Following therapy the cardiac function, hair, skin and the general health of the patient improved significantly. CONCLUSION The patient with dilated cardiomyopathy of unknown etiology, not responding to usual medication may be deficient in selenium. Serum selenium measurements should be included in the diagnostic work-up to ensure early detection and treatment of the disease. The selenium level in the Saudi population needs be determined. Vulnerable populations have to undergo regular selenium measurements and supplementation if indicated. Dependence on processed foods suggests that the Saudi population fortify themselves with nutrient and micronutrient supplements in accordance to the RDA.
3.
Transient symptomatic zinc deficiency resembling acrodermatitis enteropathica in a breast-fed premature infant: case report and brief review of the literature.
Zattra, E, Belloni Fortina, A
Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia. 2013;(6):699-702
Abstract
Transient symptomatic zinc deficiency is a rare disorder clinically indistinguishable from acrodermatitis enteropathica characterized by periorificial and acral dermatitis that usually occurs in exclusively breast-fed infant especially if preterm. We describe a three-month-old breast-fed preterm boy who developed the typical skin lesions. Maternal breast milk zinc was lower than the levels from other 2 mothers of infants at the same gestational age. The disease improved and serum zinc level became normal with oral supplementation of zinc. No recurrence of the dermatosis was observed when the treatment was stopped after weaning.
4.
[Reflections on mental retardation and congenital hypothyroidism: effects of trace mineral deficiencies].
Sidibé, el H
Sante (Montrouge, France). 2007;(1):41-50
Abstract
While deficiencies of trace minerals and vitamins are rare in humans eating a variety of food, they can occur in premature infants and those with disturbances in dietary behavior for physical or psychological reasons and during parenteral or enteral nutrition. Some deficiencies - such as iron and iodine - cause such serious specific disorders that they must be considered separately. Congenital hypothyroidism induced by iodine deficiency is a major problem. Its public health importance comes from the neurological complications that lead to the most severe forms of endemic congenital hypothyroidism (cretinism). In areas without iodine deficiency, the standard incidence of this disease in the West is 1/4,500 live births. In areas with iodine deficiency, however, its incidence varies from 1 to 5%! It is nonetheless underestimated, because the screening methods revolutionized 20 years ago are still not applied systematically. Additional factors include the thiocyanates in cassava, the selenium deficiency resulting in selenium-dependent glutathione peroxidase deficiency, and the natural goitrogens in some foods: milk, millet, walnuts, and bacterial and chemical water pollutants. Adolescents and adults need 100 microg/day, children aged 1-10 years 60-100 microg, and babies under one year, 35-40 microg, but these daily requirements are not necessarily met. This threat weighs on a billion people, 50-100 million in Europe, especially pregnant women, fetuses, newborns, and young children whose cerebral development may be negatively affected in the womb and in early life. According to some authors, subjects with cretinism syndrome should be found in places where goiter prevalence exceeds 20%. Evaluation of diffuse intellectual impairment in the population would require tools too specific for most studies. Generations of children are the victims throughout wide swaths of the African ecosystem in which it is endemic and associated with poor adaptation to the environment. But studies of isolated places cannot be transposed to entire populations. Because pregnancy in women with hypothyroidism is often thought to have a very negative prognosis, the two cases we report merit attention. In one case, despite certainly insufficient thyroid hormone replacement treatment, the child was born alive and healthy. In the second case, where hypothyroidism followed a thyroidectomy in a woman with Graves disease, a hydrocephalic child was liveborn, without any replacement treatment. In her next pregnancy, she received optimal hormonal treatment and delivered a healthy liveborn child. The disorders due to severe iodine deficiency did not affect our two patients. In a series of 166 cases of congenital hypothyroidism in newborns, only two cases had maternal antithyroid antibodies. Elsewhere, 9 women with hypothyroidism had 11 pregnancies, 9 normal children, 1 premature child (mother had eclampsia), and 1 with Down syndrome and an Ostium primum defect (mother aged 41 years). Ontogenesis of the hypothalamo-pituitary-thyroid axis of the fetus still appears today to develop independently of the mother in cases of hypothyroidism. An important role is played by type III deiodinase, which is especially active in the placenta during pregnancy, probably involving the T3 activity on nuclear and also mitochondrial receptors. The maturation of these receptors is not well understood.