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N Cetrullo, M G Guadagni, G Piana
BACKGROUND: The authors describe dental and periodontal conditions of two Chinese sisters affected by familial hypomagnesemia with hypercalciuria and nefrocalcinosis (FHHNC). FHHNC is a rare syndrome, genetically investigated since 1999, transmitted as an autosomal recessive disease. It is related to a mutation of PCN-1 gene which encodes for a tight junction protein named paracellin. CASE REPORT: Oral examination of two Chinese patients showed marked enamel hypoplasia, acute gingivitis and periodontal bone loss and severe malocclusion...
September 2006: European Journal of Paediatric Dentistry: Official Journal of European Academy of Paediatric Dentistry
Klavs Würgler Hansen, Leif Mosekilde
Gitelmans syndrome represents the clinical manifestations of inactivating mutations in the gene encoding for the thiazide sensitive sodium chloride cotransporter in the distal convoluted tubule. Thus, the biochemical characteristics resemble those seen with thiazide diuretics: hypokalemia, hypomagnesemia, hypocalcuria, metabolic alkalosis and blood pressure in the low normal range. Until the genetic background was clarified in 1996, Gitelman's syndrome was often mistaken for Bartter's syndrome, which is now attributed to defects in the ion transportation system in the thick ascending limb of Henle's loop...
March 10, 2003: Ugeskrift for Laeger
V A Laguna-Torres, M A dos Reis, R A Menegaz, G A Pelá, A Prata
Renal anatomopathological lesions were studied among 119 AIDS patients from Faculdade de Medicina do Triângulo Mineiro's University Hospital (Uberaba, MG, Brazil). From formalin-fixed blocks, slides were obtained and studied by light microscopy. Of 119 patients, 67 presented tubulointerstitial nephritis (TIN), 18 inespecific, 2 xantogranulomatous and infections agents were found in 48 as follows: mycosis in 28 (16 Cryptococcus sp; 9 Histoplasma sp, 1 Candida sp e 2 Paracoccidioides brasiliensis); bacteria in 18 (9 Mycobacterium sp), virus in 6 (Cytomegalovirus)...
September 1998: Revista da Sociedade Brasileira de Medicina Tropical
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