2005
SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis
Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabédian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Jüppner H. SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis. American Journal Of Human Genetics 2005, 78: 179-192. PMID: 16358214, PMCID: PMC1380228, DOI: 10.1086/499409.Peer-Reviewed Original ResearchConceptsConsanguineous BedouinFirst membrane-spanning domainMembrane-spanning domainsPhosphate homeostasisRenal sodium-phosphate cotransporterNucleotide sequence analysisDihydroxyvitamin D levelsSingle nucleotide deletionHereditary hypophosphatemic ricketsCompound heterozygous missenseSLC34A3 mutationsHomozygous single nucleotide deletionHypophosphatemic ricketsLinkage scanCandidate genesGenomic DNASodium-phosphate cotransporterSequence analysisD levelsHomozygosity mappingDeletion mutationsGenomewide linkage scanKey roleChromosome 9q34Mutations
2002
A patient with autoimmune hepatitis type I, Addison's disease, atrophic thyroiditis, atrophic gastritis, exocrine pancreatic insufficiency, and heterozygous α1-antitrypsin deficiency
Bergwitz C, Trautwein C, Brabant G, Manns MP. A patient with autoimmune hepatitis type I, Addison's disease, atrophic thyroiditis, atrophic gastritis, exocrine pancreatic insufficiency, and heterozygous α1-antitrypsin deficiency. The American Journal Of Gastroenterology 2002, 97: 1050. PMID: 12003388, DOI: 10.1111/j.1572-0241.2002.05628.x.Peer-Reviewed Original ResearchConceptsModerate alcohol consumptionAtrophic gastritisAutoimmune hepatitisAddison's diseaseAlcohol consumptionAssociation of autoimmune hepatitisAutoimmune hepatitis type IHeterozygous alpha1-antitrypsin deficiencyHeterozygous α1-Antitrypsin DeficiencyHistory of Addison's diseaseSerum alpha1-antitrypsin levelsDiagnosis of autoimmune hepatitisDecompensated liver cirrhosisDevelopment of cirrhosisSevere atrophic gastritisAdditional risk factorsAlpha1-antitrypsin deficiencyAlpha1-antitrypsin levelsΑ1-antitrypsin deficiencyAlpha1-antitrypsin geneExocrine pancreatic insufficiencyAtrophic thyroiditisHydrocortisone therapyAdrenal insufficiencyLiver biopsy