1/5. Calcinosis and metastatic calcification due to vitamin d intoxication. A case report and review.vitamin d, a fat-soluble vitamin, can be associated with significant morbidity when prescribed in large doses. We describe a hypoparathyroid patient with vitamin d intoxication who developed painful periarticular calcinosis, nephrocalcinosis with hypertension and chronic renal failure in addition to band keratopathy and hearing loss. He was treated with combination therapy including prednisone, phosphate-binding antacid, phenytoin and disodium etidronate. After 20 months of follow-up there was a significant reduction of periarticular calcinosis, but no improvement in renal function, band keratopathy or hearing loss and possible calcification of the ossicles. The clinicopathologic features of metastatic calcification and the various treatment modalities are reviewed.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
2/5. A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis.OBJECTIVE: The anion exchanger gene (AE1) or band 3 encodes a chloride-bicarbonate (Cl(-)/HCO(3)(-)) exchanger expressed in the erythrocyte and in the renal alpha-intercalated cells involved in urine acidification. The purpose of the present study was to screen for mutations in the AE1 gene in 2 brothers (10 and 15 years of age) with familial distal renal tubular acidosis (dRTA), nephrocalcinosis, and failure to thrive. methods: AE1 mutations were screened by single-strand conformation polymorphism, cloning, and sequencing. RESULTS: A complete form of dRTA was confirmed in the 2 affected brothers and an incomplete form in their father. All 3 were heterozygous for a novel 20-bp deletion in exon 20 of the AE1 gene. This deletion resulted in 1 mutation in codon 888 (Ala-888-->Leu) followed by a premature termination codon at position 889, truncating the protein by 23 amino acids. As band 3 deficiency might lead to spherocytic hemolytic anemia or ovalocytosis, erythrocyte abnormalities were also investigated, but no morphologic changes in erythrocyte membrane were found and the osmotic fragility test was normal. CONCLUSIONS: A novel mutation in the AE1 gene was identified in association with autosomal dominant dRTA. We suggest that RTA be considered a diagnostic possibility in all children with failure to thrive and nephrocalcinosis.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
3/5. Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study.A 7-month-old male infant was referred for investigation after a documented febrile urinary tract infection. His past medical history was characterized by episodes of unexplained fever and mild dehydration. The ultrasound examination of his kidneys demonstrated bilateral diffuse medullary nephrocalcinosis. His serum and urine biochemistry revealed hypomagnesemia (0.4 mmol/l), hyperuricaemia (506 micromol/l), mildly increased iPTH (71 pg/ml) and hypercalciuria (16.0 mg/kg/day). The diagnosis of familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) was confirmed by mutational analysis of the CLDN16 gene, encoding paracellin-1. Sequencing displayed a homozygous Leu151Phe exchange affecting the first extracellular loop of paracellin-1. There were eight family relatives who underwent biochemical analysis, renal ultrasound and genetic investigation for CLDN16 mutations. Five of them were found to be heterozygous for the Leu151Phe mutation. Two heterozygotes (the mother and the maternal grandfather) presented with hypercalciuria. The grandfather had a history of recurrent passage of calculi. These findings point to the role of heterozygous CLDN16 gene mutations in renal pathophysiology. In conclusion, patients suspected of having FHHNC should be screened for CLDN16 mutations, especially with respect to genetic counseling. In addition, heterozygotes at risk should be clinically assessed in order to prevent renal complications of hypercalciuria.- - - - - - - - - - ranking = 2keywords = fat (Clic here for more details about this article) |
4/5. subcutaneous fat necrosis with hypercalcemia.subcutaneous fat necrosis of the newborn (SCFN) is an uncommon condition and may be complicated by hypercalcemia. A 28-day-old neonate, presenting with SCFN, hypercalcemia and nephrocalcinosis was managed with intravenous saline followed by furosemide, oral prednisolone, potassium citrate and etidronate.- - - - - - - - - - ranking = 5keywords = fat (Clic here for more details about this article) |
5/5. nephrocalcinosis and nephrolithiasis due to subcutaneous fat necrosis with hypercalcemia in two full-term asphyxiated neonates: sonographic findings.subcutaneous fat necrosis leading to hypercalcemia is rare but well documented in asphyxiated neonates. This paper presents two such neonates in whom sonography revealed the development of nephrocalcinosis and nephrolithiasis. The kidneys had initially been shown to be normal sonographically. In one infant, nephrocalcinosis developed as increasing echogenicity of the medullary pyramids. In the other, increased echogenicity of the renal cortex of uncertain cause developed together with nephrolithiasis. These sonographic appearances have not been described previously in this entity.- - - - - - - - - - ranking = 13142.692101953keywords = subcutaneous fat, fat (Clic here for more details about this article) |