2023
Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review
Dodamani M, Memon S, Karlekar M, Lila A, Khan M, Sarathi V, Arya S, Jamale T, Thakare S, Patil V, Shah N, Bergwitz C, Bandgar T. Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review. Calcified Tissue International 2023, 114: 137-146. PMID: 37981601, DOI: 10.1007/s00223-023-01156-2.Peer-Reviewed Original ResearchConceptsSingle-center experienceHereditary hypophosphatemic ricketsRenal calcificationSLC34A3 mutationsSystematic reviewHypophosphatemic ricketsLow bone mineral densityC-terminal FGF23Median age 38 yearsBone mineral densityIron deficiency anemiaPhenotype-genotype correlationAge 38 yearsDisorders of phosphate homeostasisRickets/osteomalaciaNon-truncating variantsLow BMDNormal BMDBone involvementDeficiency anemiaSingle-centerMineral densityCase seriesElevated FGF23Initial misdiagnosis
2020
Different elemental infant formulas show equivalent phosphorus and calcium bioavailability in healthy volunteers
Bergwitz C, Eussen SRBM, Janssens PLHR, Visser M, Carpenter TO, van Helvoort A. Different elemental infant formulas show equivalent phosphorus and calcium bioavailability in healthy volunteers. Nutrition Research 2020, 85: 71-83. PMID: 33450668, DOI: 10.1016/j.nutres.2020.11.004.Peer-Reviewed Original ResearchConceptsGeometric mean ratiosAcid-suppressive medicationsArea under the curveHealthy volunteersSerum phosphateCalcium bioavailabilityGastric acid-suppressive medicationsRetrospective chart reviewSerum calcium concentrationBioavailability of phosphorusCross-over studyInfant formulaElemental formula useSingle oral doseCalcium excretionDouble-blindGram of phosphorusSingle-centerChart reviewOral doseOvernight fastingSerum phosphorusBioequivalence criteriaWashout periodMean ratiosTargeted FGFR Blockade for the Treatment of Tumor-Induced Osteomalacia
Hartley IR, Miller CB, Papadakis GZ, Bergwitz C, Del Rivero J, Blau JE, Florenzano P, Berglund JA, Tassone J, Roszko KL, Moran S, Gafni RI, Isaacs R, Collins MT. Targeted FGFR Blockade for the Treatment of Tumor-Induced Osteomalacia. New England Journal Of Medicine 2020, 383: 1387-1389. PMID: 32905668, PMCID: PMC7561341, DOI: 10.1056/nejmc2020399.Peer-Reviewed Original ResearchMeSH KeywordsAgedChondrosarcoma, MesenchymalDisease ProgressionFatal OutcomeFibroblast Growth Factor-23Fibroblast Growth FactorsHumansMaleMolecular Targeted TherapyNeoplasms, Connective TissueOsteomalaciaParaneoplastic SyndromesPhenylurea CompoundsPositron Emission Tomography Computed TomographyPyrimidinesReceptor Protein-Tyrosine KinasesReceptor, Fibroblast Growth Factor, Type 1
2019
Transgenic mouse model for conditional expression of influenza hemagglutinin-tagged human SLC20A1/PIT1
Chande S, Ho B, Fetene J, Bergwitz C. Transgenic mouse model for conditional expression of influenza hemagglutinin-tagged human SLC20A1/PIT1. PLOS ONE 2019, 14: e0223052. PMID: 31613887, PMCID: PMC6793878, DOI: 10.1371/journal.pone.0223052.Peer-Reviewed Original ResearchMeSH KeywordsActinsAnimalsBeta-GlobinsBiological TransportBone DensityCalcitriolChickensCytomegalovirusFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsFounder EffectHemagglutinin Glycoproteins, Influenza VirusHumansMaleMiceMice, TransgenicOsteoblastsParathyroid HormonePhosphatesPrimary Cell CulturePromoter Regions, GeneticRabbitsRecombinant Fusion ProteinsSkullTranscription Factor Pit-1TransgenesConceptsPrimary calvaria osteoblastsLoxP-stop-loxPLoxP-STOP-loxP cassetteMouse modelDihydroxy vitamin D levelsHemagglutinin (HABone mineral densityVitamin D levelsInfluenza hemagglutinin (HAConditional mouse modelActivation of transgene expressionElevated plasma PiTransgenic mouse modelPlasma iPTHUrine PiBeta-globin geneSerum calciumWT littermatesMineral densityDays of ageProtein excretionD levelsSemi-quantitative RT-PCRStandard chowTransgenic mice
2017
Intraperitoneal pyrophosphate treatment reduces renal calcifications in Npt2a null mice
Caballero D, Li Y, Fetene J, Ponsetto J, Chen A, Zhu C, Braddock DT, Bergwitz C. Intraperitoneal pyrophosphate treatment reduces renal calcifications in Npt2a null mice. PLOS ONE 2017, 12: e0180098. PMID: 28704395, PMCID: PMC5509111, DOI: 10.1371/journal.pone.0180098.Peer-Reviewed Original ResearchConceptsRenal calcificationCompared to WT miceElevated urinary excretionRenal stone diseaseNucleotide pyrophosphatase phosphodiesterase 1WT miceDietary calciumUrinary excretionIntraperitoneal administrationStone diseaseNull miceMouse mutationMiceCalcificationNephrocalcinosisNpt2aDisordersUnrecognized factorsContribution of genotypePresent studyPhosphodiesterase 1PPINpt2cPatientsNephrolithiasisResponse of Npt2a knockout mice to dietary calcium and phosphorus
Li Y, Caballero D, Ponsetto J, Chen A, Zhu C, Guo J, Demay M, Jüppner H, Bergwitz C. Response of Npt2a knockout mice to dietary calcium and phosphorus. PLOS ONE 2017, 12: e0176232. PMID: 28448530, PMCID: PMC5407772, DOI: 10.1371/journal.pone.0176232.Peer-Reviewed Original ResearchConceptsCompared to WT miceWT miceDietary calciumDietary phosphateCalcium x phosphorus productUrine phosphate levelsUrinary calcium excretionUrine anion gapDevelopment of novel therapiesWild-typeRenal stone diseaseWild-type miceNpt2a-knockout (KO) miceCalcium excretionFGF23 levelsNovel therapiesPreventing nephrolithiasisPlasma phosphateStone diseaseAnion gapAddition of calciumKnockout micePhosphorus productCalcium phosphate depositionHuman carriers
2016
Impaired urinary osteopontin excretion in Npt2a−/− mice
Caballero D, Li Y, Ponsetto J, Zhu C, Bergwitz C. Impaired urinary osteopontin excretion in Npt2a−/− mice. American Journal Of Physiology. Renal Physiology 2016, 312: f77-f83. PMID: 27784695, PMCID: PMC5283892, DOI: 10.1152/ajprenal.00367.2016.Peer-Reviewed Original ResearchConceptsOPN gene expressionUrinary excretionRenal phosphate wasting disordersHigh-phosphate dietPhosphate wasting disordersOral phosphate supplementationRenal gene expressionRenal stone diseaseGene expressionAdditional risk factorsOPN levelsRole of OPNWasting disordersStone diseaseUrine excretionMouse modelNpt2aRisk factorsMouse mutationPhosphate supplementationRenal phosphateMiceRestored to wild-type levelsExcretionNephrocalcinosisHypophosphatemia promotes lower rates of muscle ATP synthesis
Pesta DH, Tsirigotis DN, Befroy DE, Caballero D, Jurczak MJ, Rahimi Y, Cline GW, Dufour S, Birkenfeld AL, Rothman DL, Carpenter TO, Insogna K, Petersen KF, Bergwitz C, Shulman GI. Hypophosphatemia promotes lower rates of muscle ATP synthesis. The FASEB Journal 2016, 30: 3378-3387. PMID: 27338702, PMCID: PMC5024687, DOI: 10.1096/fj.201600473r.Peer-Reviewed Original ResearchConceptsMuscle ATP synthesisATP synthesisMuscle weaknessIsolated muscle mitochondriaSolute carrier familyWild-type littermate controlsSolute carrier family 34Carrier familyLower ratesInsulin-stimulated ratesMuscle mitochondriaChronic hypophosphatemiaHeart failureHypophosphatemic groupHypophosphatemic miceHypophosphatemiaLittermate controlsKnockout miceBlood PLow ratePlasma PPatientsSimilar findingsMember 1Plasma inorganic phosphate
2014
Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis
Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C. Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis. Journal Of The American Society Of Nephrology 2014, 25: 2366-2375. PMID: 24700880, PMCID: PMC4178443, DOI: 10.1681/asn.2013101085.Peer-Reviewed Original ResearchConceptsIdiopathic hypercalciuriaDecreased tubular reabsorption of phosphateIncreased risk of kidney stone formationSerum 1,25(OH)2 vitamin DTubular reabsorption of phosphateAssociated with kidney stonesVitamin D levelsSolute carrier family 34Renal phosphate wastingDecreased serum phosphateHereditary hypophosphatemic ricketsHealthy family membersReabsorption of phosphateRisk of kidney stone formationRickets/osteomalaciaDecreased tubular reabsorptionKidney stone formationSLC34A3 mutationsIndependent of genotypeMedullary nephrocalcinosisSerum phosphateVitamin DDependent phosphate cotransporterTubular reabsorptionD levels
2012
Fanconi-Bickel Syndrome and Autosomal Recessive Proximal Tubulopathy with Hypercalciuria (ARPTH) Are Allelic Variants Caused by GLUT2 Mutations
Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, Bergwitz C, Mounien L, Boepple P, Thorens B, Zelikovic I, Jüppner H. Fanconi-Bickel Syndrome and Autosomal Recessive Proximal Tubulopathy with Hypercalciuria (ARPTH) Are Allelic Variants Caused by GLUT2 Mutations. The Journal Of Clinical Endocrinology & Metabolism 2012, 97: e1978-e1986. PMID: 22865906, PMCID: PMC3462928, DOI: 10.1210/jc.2012-1279.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAmino Acid SequenceAnimalsFamilial Hypophosphatemic RicketsFamily HealthFanconi SyndromeFemaleGenes, RecessiveGenetic VariationGenome-Wide Association StudyGlucose Transporter Type 1Glucose Transporter Type 2HumansHypercalciuriaHypophosphatemia, FamilialKidney Tubules, ProximalMaleMiceMice, TransgenicMolecular Sequence DataOocytesPedigreeRicketsSodium-Phosphate Cotransporter Proteins, Type IIaSodium-Phosphate Cotransporter Proteins, Type IIcXenopus laevisConceptsGlucose transporter 2Sequence analysis of candidate genesCandidate genesSequence analysisGenome-wide linkage scanAnalysis of candidate genesFanconi-Bickel syndromeProximal renal tubulopathyRenal tubulopathyNucleotide sequence analysisGenetic mappingHomozygous mutationPhosphate importLinkage scanMolecular basisXenopus oocytesTransport of glucoseGLUT2 mutationsMolecular levelGenesGlucose transportUrinary phosphate excretionAllelic variantsPhosphate homeostasisDirect nucleotide sequence analysisNovel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred
Yu Y, Sanderson SR, Reyes M, Sharma A, Dunbar N, Srivastava T, Jüppner H, Bergwitz C. Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred. Bone 2012, 50: 1100-1106. PMID: 22387237, PMCID: PMC3322249, DOI: 10.1016/j.bone.2012.02.015.Peer-Reviewed Original ResearchConceptsVitamin D levelsIdiopathic hypercalciuriaKindred APTH levelsD levelsLong-term follow-upBilateral medullary nephrocalcinosisMild bone abnormalitiesSuppressed PTH levelsMutation c.Hereditary hypophosphatemic ricketsRenal phosphate-wastingRickets/osteomalaciaAssess treatment efficacyCompound heterozygous mutationsHHRH patientsKindred BKindred CSLC34A3 mutationsOral phosphateHeterozygous c.Medullary nephrocalcinosisHeterozygous mutationsNaPi-IIcHypercalciuria
2011
Case 33-2011 — A 56-Year-Old Man with Hypophosphatemia
Bergwitz C, Collins MT, Kamath RS, Rosenberg AE. Case 33-2011 — A 56-Year-Old Man with Hypophosphatemia. New England Journal Of Medicine 2011, 365: 1625-1635. PMID: 22029985, PMCID: PMC4907641, DOI: 10.1056/nejmcpc1104567.Peer-Reviewed Original ResearchHereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis—Identification of a novel SLC34A3/NaPi‐IIc mutation
Phulwani P, Bergwitz C, Jaureguiberry G, Rasoulpour M, Estrada E. Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis—Identification of a novel SLC34A3/NaPi‐IIc mutation. American Journal Of Medical Genetics Part A 2011, 155: 626-633. PMID: 21344632, PMCID: PMC4777326, DOI: 10.1002/ajmg.a.33832.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceChild, PreschoolFamilial Hypophosphatemic RicketsFemaleHumansHypercalciuriaInfantInfant, NewbornMaleMolecular Sequence DataMutationNephrolithiasisPedigreePolymorphism, Single NucleotidePregnancyRestriction MappingReverse Transcriptase Polymerase Chain ReactionRNA, MessengerSodium-Phosphate Cotransporter Proteins, Type IIcConceptsHereditary hypophosphatemic ricketsHypophosphatemic ricketsElevated 1,25-dihydroxyvitamin DGastrointestinal calcium absorptionHistory of nephrolithiasisIncreased gastrointestinal calcium absorptionPTH levelsRecurrent nephrolithiasisRenal ultrasoundSerum calciumCalcium absorptionNaPi-IIcPatient's motherHypercalciuriaSplicing mutationCompound heterozygosityNephrolithiasisRicketsNovel splice mutationHHRHDihydroxyvitaminPhenotypic changesMutationsMothersSplice mutation
2010
Acute Down-regulation of Sodium-dependent Phosphate Transporter NPT2a Involves Predominantly the cAMP/PKA Pathway as Revealed by Signaling-selective Parathyroid Hormone Analogs
Nagai S, Okazaki M, Segawa H, Bergwitz C, Dean T, Potts JT, Mahon MJ, Gardella TJ, Jüppner H. Acute Down-regulation of Sodium-dependent Phosphate Transporter NPT2a Involves Predominantly the cAMP/PKA Pathway as Revealed by Signaling-selective Parathyroid Hormone Analogs. Journal Of Biological Chemistry 2010, 286: 1618-1626. PMID: 21047792, PMCID: PMC3020770, DOI: 10.1074/jbc.m110.198416.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCattleChlorocebus aethiopsCOS CellsCyclic AMPCyclic AMP-Dependent Protein KinasesDown-RegulationHumansIn Vitro TechniquesKidney Tubules, ProximalMaleMiceMice, Inbred C57BLOpossumsOsteoblastsParathyroid HormonePhosphorusPseudohypoparathyroidismRatsSignal TransductionSodiumSodium-Phosphate Cotransporter Proteins, Type IIaConceptsAcute down-regulationNpt2a expressionParathyroid hormoneRenal proximal tubule cellsParathyroid hormone (PTH)/PTH-related peptideCAMP/PKALong-acting PTH analogPTH analogsWild-type miceRenal proximal tubulesIntracellular calcium responsesParathyroid hormone analogProximal tubule cellsOpossum kidney cellsM-PTH(1Prolonged cAMP responsesParathyroid hormone analoguesCAMP/PKA signaling pathwayPTH-dependent regulationRenal brush border membraneClonal cell linesInducing IP(3Pseudohypoparathyroid patientsMembrane expressionCalcium response
2008
Cellular Mechanism of Decreased Bone in Brtl Mouse Model of OI: Imbalance of Decreased Osteoblast Function and Increased Osteoclasts and Their Precursors*
Uveges TE, Collin‐Osdoby P, Cabral WA, Ledgard F, Goldberg L, Bergwitz C, Forlino A, Osdoby P, Gronowicz GA, Marini JC. Cellular Mechanism of Decreased Bone in Brtl Mouse Model of OI: Imbalance of Decreased Osteoblast Function and Increased Osteoclasts and Their Precursors*. Journal Of Bone And Mineral Research 2008, 23: 1983-1994. PMID: 18684089, PMCID: PMC2686922, DOI: 10.1359/jbmr.080804.Peer-Reviewed Original ResearchConceptsColony-forming unitsRANKL/OPG ratioOsteogenesis imperfectaWildtype valuesCompared to wildtype miceSevere osteogenesis imperfectaReal-time RT-PCRMouse model of OIIncreases osteoclast precursorsBone-resorbing osteoclastsOI therapyKnock-in modelIncreased osteoclastsOsteoclast increaseMarrow culturesWildtype miceModel of OITRACP stainingOsteoblast functionOsteoclast precursorsCellular mechanismsBrtl miceOsteoclastsRT-PCRTRACP(+A Patient With Hypophosphatemia, a Femoral Fracture, and Recurrent Kidney Stones: Report of a Novel Mutation in SLC34A3
Page K, Bergwitz C, Jaureguiberry G, Harinarayan CV, Insogna K. A Patient With Hypophosphatemia, a Femoral Fracture, and Recurrent Kidney Stones: Report of a Novel Mutation in SLC34A3. Endocrine Practice 2008, 14: 869-874. PMID: 18996815, PMCID: PMC2773288, DOI: 10.4158/ep.14.7.869.Peer-Reviewed Original ResearchConceptsSLC34A3 geneClinical presentationNovel mutationsHistory of flank painMissense mutationsPatient's unusual clinical presentationUnusual clinical presentationPatient's clinical courseAtypical clinical presentationHereditary hypophosphatemic ricketsTreated with calcitriolRecurrent kidney stonesDisorder associated with mutationsGenomic DNA samplesStress fracturesSLC34A3 mutationsFlank painRecurrent nephrolithiasisInsufficiency fracturesClinical courseClinical improvementNaPi-IIcHypophosphatemic ricketsCompound heterozygotesGenetic analysisA novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc
Jaureguiberry G, Carpenter TO, Forman S, Jüppner H, Bergwitz C. A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. American Journal Of Physiology. Renal Physiology 2008, 295: f371-f379. PMID: 18480181, PMCID: PMC2519180, DOI: 10.1152/ajprenal.00090.2008.Peer-Reviewed Original ResearchMeSH KeywordsAdultAllelesAnimalsBase SequenceExocytosisFamilial Hypophosphatemic RicketsFemaleHaplotypesHumansHypercalciuriaKidneyMaleMolecular Sequence DataMutation, MissenseOocytesOpossumsPhosphatesPolymorphism, Single NucleotideSodiumSodium-Phosphate Cotransporter ProteinsSodium-Phosphate Cotransporter Proteins, Type IIcThreonineXenopus laevisConceptsEncoding enhanced green fluorescent proteinHereditary hypophosphatemic ricketsNaPi-IIcSodium-phosphate cotransporterLoss of expressionAmino acid residuesSodium-phosphate cotransportGreen fluorescence proteinImportant functional roleComplete lossOpossum kidneyHypophosphatemic ricketsXenopus laevis oocytesNovel missense mutationPaternal alleleWild-typeFunctional analysisFluorescence proteinNH2 terminusAcid residuesApical patchesCompound heterozygous mutationsExpression plasmidFunctional roleRecurrent kidney stones
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
2004
Brittle IV Mouse Model for Osteogenesis Imperfecta IV Demonstrates Postpubertal Adaptations to Improve Whole Bone Strength*
Kozloff KM, Carden A, Bergwitz C, Forlino A, Uveges TE, Morris MD, Marini JC, Goldstein SA. Brittle IV Mouse Model for Osteogenesis Imperfecta IV Demonstrates Postpubertal Adaptations to Improve Whole Bone Strength*. Journal Of Bone And Mineral Research 2004, 19: 614-622. PMID: 15005849, DOI: 10.1359/jbmr.040111.Peer-Reviewed Original ResearchMeSH KeywordsAdaptation, PhysiologicalAgingAmino Acid SubstitutionAnatomy, Cross-SectionalAnimalsBone DensityBone DevelopmentBone MatrixCollagen Type IDisease Models, AnimalFemurMaleMiceMice, TransgenicMineralsOsteogenesis ImperfectaRadiographySpectrum Analysis, RamanStress, MechanicalTensile StrengthConceptsMatrix material propertiesWhole bone geometryMaterial propertiesWhole bone strengthOsteogenesis imperfectaMouse modelBone geometryBone strengthMatrix compositesMechanical testsStiffness increaseType IV osteogenesis imperfectaMicroCT dataInvestigate therapeutic interventionsGeometric parametersMechanism independent of changesMouse model of OIRaman spectroscopic resultsMonths of ageMechanically tested to failureKnock-in modelOI patientsRaman spectroscopyGeometric resistanceIndependent of changes
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