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Sida 1 från 25 resultat
Hypophosphatemic rickets accompanying congenital microvillous atrophy.
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This report concerns an 11-year-old boy who manifested hypophosphatemic rickets associated with congenital microvillous atrophy (CMA). He had been suffering from vomiting and severe diarrhea from the first day of life and had been treated with total parenteral nutrition (TPN) since he was 67 days
Refractory rickets caused by mild distal renal tubular acidosis.
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Type I (distal) renal tubular acidosis (RTA) is a disorder associated with the failure to excrete hydrogen ions from the distal renal tubule. It is characterized by hyperchloremic metabolic acidosis, an abnormal increase in urine pH, reduced urinary excretion of ammonium and bicarbonate ions, and
Vitamin D-dependent rickets type 2 in a four-month-old cat.
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Vitamin D-dependent rickets type 2 in a four-month-old cat A 4-month-old male domestic shorthair cat was examined because of lethargy, vomiting, diarrhea, muscle tremors, and mydriasis. Laboratory evaluation revealed hypocalcemia, hyperphosphatemia, and high intact parathormone and calcitriol
A failing to thrive 18 month old with vitamin D deficiency rickets and Helicobacter pylori gastritis.
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A 14-month-old girl presented with the recurring bouts of vomiting and diarrhoea and failure to thrive. At 7 months of age, the baby was found to be exclusively breast fed and her blood tests revealed low calcium, low phosphorous and markedly elevated alkaline phosphatase. She was started on vitamin
Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria.
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Renal Fanconi syndrome is diagnosed by its cardinal features of glycosuria without diabetes, aminoaciduria, phosphaturia, and renal tubular acidosis. It is often associated with hypokalaemia, hypophosphatemia and rickets. We report a seven-year-old boy with nephropathic cystinosis who presented with
[Primary distal renal tubular acidosis in children in the South of Tunisia: study of 15 cases].
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BACKGROUND
primary distal renal tubular acidosis in children (RTA) is characterized by metabolic acidosis due to defect in urinary excretion of hydrogen (H+) in the distal tubular.
OBJECTIVE
To report the epidemiological, clinical, therapeutic and evolutionary of distal RTA in our
Glycosuria and hyperglycemia in the neonatal period as the first clinical sign of Fanconi-Bickel syndrome.
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Fanconi-Bickel syndrome is a rare inherited disease characterized by the combination of hepatorenal glycogen accumulation, proximal renal tubular dysfunction and impaired utilization of glucose and galactose. The first symptoms of the disorder are recognized in late infancy as clinical
[New cases of celiac disease detected by anti-endomysial antibody test in families of gluten-sensitive patients and among children examined for non-specific gastrointestinal complaints].
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Among 228 relatives of 101 gluten-sensitive patients, 13 anti-endomysium antibody (EmA) positive persons (7 children and 6 adults) were identified. In 12/13 cases jejunal biopsy confirmed severe villous atrophy consistent with celiac disease. In the single EmA positive sibling without villous
Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases.
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Twenty infants and young children with hereditary fructose intolerance (HFI) were admitted to hospital. None was diagnosed at admission. Referals were for vomiting of unknown aetiology (16X), pyloric stenosis or hiatus hernia (5X), toxic condition (3X), and hepatomegaly of unknown origin (5X).
Oral erythromycin for treatment of feeding intolerance in preterm infants: a preliminary report.
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Feeding intolerance is a common problem in preterm infants resulting in a prolonged hyperalimentation which is associated with an increased risk of serious and sometimes even life threatening complications, including cholestasis jaundice, liver impairment, nutritional deficiency, biochemical rickets
Renal tubular acidosis in childhood.
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Nineteen children with clinical diagnoses of renal tubular acidosis were followed for periods ranging from 3 months to 20 years. Twelve patients had Type 1 renal tubular acidosis, five had Type 2, and two had Type 4. No sex predilection was found for any one of the types. Most patients had been
Comparison of calcium- and phosphorus-supplemented soy isolate formula with whey-predominant premature formula in very low birth weight infants.
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In a random, controlled study of very low birth weight (VLBW) infants from 3 to 8 weeks of age, 17 infants were fed soy isolate formula supplemented with calcium (92 mg/kg/day), phosphorus (44 mg/kg/day), and vitamin D (500 IU/kg/day), and 15 were fed a new whey-predominant, low osmolality formula
[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I].
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BACKGROUND
Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive inborn error of metabolism caused by deficiency of fumarylacetoacetate hydrolase. HT1 manifests with severe liver and kidney impairment and associates with an increased risk of liver cancer development. The aim of our study
Tyrosinemia type 1 should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failure.
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Tyrosinemia type l is an inherited metabolic disorder attributable to deficiency of fumarylacetoacetate hydrolase, a terminal enzyme in the degradation pathway of tyrosine. Affected individuals may present with any of a number of signs and symptoms, including failure to thrive, fever, vomiting,
Metabolic bone disease secondary to renal and intestinal disorders.
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Metabolic bone disease occurring in renal or intestinal disorders has been reviewed with particular reference to etiological factors. Hyperparathyroidism is seen as a recurring cycle of renal damage-hyperphosphatemia-hypocalcemia-parathyroid stimulation-mobilization of bone calcium and
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