{ "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-12T09:06:07Z", "providers": [ "Codex" ], "breadth": "recalled by Codex without web access - no source was read", "missingProviders": [], "pass": 2, "cost": { "grok": { "seconds": 25.9, "error": "Reading additional input from stdin...\nOpenAI Codex v0.153.4\n--------\nworkdir: R:\\02_PROJECTS\\02_Meta_Models_Platforms\\Ver.cy\\current\\thing-registry-backlog\nmodel: gpt-6-astra\nprovider: openai\napproval: never\nsandbox: read-only\nreasoning effort: none\nreasoning summaries: none\nsession id: 01a094dc-9461-74b2-becf-c8809458c14e\n--------\nuser\nDescribe what is already known about one registered thing. Answer as JSON only, no prose around it.\n\nThing: Dent disease\nSense to describe: (none recorded)\nDomain code: XCT.STA\nAlso known as: (none)\n\n\nContext for this batch of 1001 things:\n# Batch 043: 1001 re", "usd": 0.0, "recall": true }, "codex": { "seconds": 88.9, "error": "Reading additional input from stdin...\nOpenAI Codex v0.153.4\n--------\nworkdir: R:\\02_PROJECTS\\02_Meta_Models_Platforms\\Ver.cy\\current\\thing-registry-backlog\nmodel: gpt-6-astra\nprovider: openai\napproval: never\nsandbox: read-only\nreasoning effort: none\nreasoning summaries: none\nsession id: 01a094dc-945a-77b1-ba7a-66d564e57271\n--------\nuser\nYou are drafting a Vercy meta-model for one registered thing. Answer as JSON only, no prose around it.\n\nThing: Dent disease\nRegistry id: vr.tr.dent-disease\nPlane / domain: XCT / XCT.STA\nRegistry definition: (none recorded)\nNames folded into this entry: (none)\n" } }, "enrichment": { "pass": 3, "engine": "claude", "producedAt": "2026-10-06T12:00:00Z", "ingestedAt": "2026-10-06T08:38:55+00:00", "fields": [ "agent_conduct", "ethics", "failure_modes_and_hazards", "owners" ] }, "gate": { "passed": true, "version": "1.0", "at": "2026-10-07T10:10:31+00:00", "evidence": [ "completeness 1.00", "sense: Wikidata description", "2 live sources", "review by codex: pass" ] } }, "metaModel": { "id": "THING-Q4420121", "registryId": "vr.tr.dent-disease", "name": "Dent disease", "version": "0.1.0-research.1", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q4420121/", "model": { "registry_id": "vr.tr.dent-disease", "name": "Dent disease", "purpose": "Enable an agent to recognise Dent disease, assess its diagnostic certainty and renal consequences, and identify evidence needed for appropriate specialist decisions.", "definition": "Dent disease is a rare X-linked inherited disorder of renal proximal tubular function characterized by low-molecular-weight proteinuria, commonly accompanied by hypercalciuria, nephrocalcinosis or kidney stones, and a variable risk of progressive chronic kidney disease.", "scope_statement": "This model owns the disease concept vr.tr.dent-disease within XCT / XCT.STA, including its molecular subtypes, diagnostic boundaries, variable expression, progression and disease-specific management considerations.", "in_scope": [ "Dent disease 1, Dent disease 2 and clinically suspected disease with unresolved molecular cause", "Proximal tubular protein loss, calcium handling and associated renal manifestations", "Diagnostic evidence, differential diagnosis and versioned classification", "Inheritance, family expression and affected populations", "Kidney function trajectory, mineral and bone complications, and management evidence" ], "out_of_scope": [ "Patient identity and the complete longitudinal health record", "Visits, admissions and episodes of care", "Standalone models of CLCN5, OCRL and individual genetic variants", "Lowe syndrome and other inherited or acquired tubulopathies as independent diseases", "General stone disease, chronic kidney disease and prescribing workflows" ], "distinguishing_features": [ "Persistent low-molecular-weight proteinuria supports a proximal tubular phenotype; total urine protein alone cannot establish this distinction.", "Hypercalciuria and renal calcification support recognition, but their absence must be interpreted against age and the diagnostic framework used.", "Disease-causing CLCN5 and OCRL variants distinguish molecularly established Dent disease 1 and 2 respectively; an uncertain variant must retain its uncertainty.", "An OCRL finding requires assessment of ocular and neurodevelopmental features to distinguish Dent disease 2 from Lowe syndrome.", "An X-linked family pattern supports recognition, while a negative family history does not independently exclude disease. Clinical anchors: [GeneReviews](https://www.ncbi.nlm.nih.gov/books/NBK99494/) and [clinical practice recommendations](https://pmc.ncbi.nlm.nih.gov/articles/PMC12209860/)." ], "characteristics": [ { "name": "Diagnostic assertion", "kind": "state", "unit_or_values": "suspected; clinically supported; molecularly established; disputed; excluded, with date and criteria source", "why_it_matters": "Separates the condition from a clinician's changing assertion about its presence." }, { "name": "Molecular subtype", "kind": "category", "unit_or_values": "Dent disease 1; Dent disease 2; unresolved", "why_it_matters": "Organises genetic evidence without forcing unresolved cases into a confirmed subtype." }, { "name": "Causal variant evidence", "kind": "relation", "unit_or_values": "gene, transcript, HGVS variant, zygosity, laboratory classification, report date and testing coverage", "why_it_matters": "Makes a subtype assignment auditable and supports later reinterpretation." }, { "name": "Low-molecular-weight protein excretion", "kind": "measurement", "unit_or_values": "named analyte, concentration or analyte-to-creatinine ratio, laboratory units, reference interval and specimen conditions", "why_it_matters": "Documents the tubular protein-loss phenotype using interpretable assays." }, { "name": "Urinary calcium excretion", "kind": "measurement", "unit_or_values": "24-hour calcium in mg/kg/day or mmol/day; spot calcium-to-creatinine ratio in stated units with age-specific interpretation", "why_it_matters": "Prevents incompatible sampling methods or paediatric thresholds from being conflated." }, { "name": "Renal calcification phenotype", "kind": "state", "unit_or_values": "nephrocalcinosis and nephrolithiasis recorded separately as present, absent or unassessed, with imaging date", "why_it_matters": "Distinguishes tissue calcification from stones and supports longitudinal comparison." }, { "name": "Kidney function trajectory", "kind": "measurement", "unit_or_values": "eGFR in mL/min/1.73 m² with equation, date and serial change", "why_it_matters": "Supports progression assessment without equating proteinuria severity with filtration loss." }, { "name": "Additional proximal tubular losses", "kind": "measurement", "unit_or_values": "phosphate handling, serum bicarbonate, potassium, glycosuria with concurrent blood glucose, and aminoaciduria in stated units", "why_it_matters": "Describes the extent of tubular dysfunction rather than assuming a complete Fanconi phenotype." }, { "name": "Extrarenal expression", "kind": "state", "unit_or_values": "growth, skeletal, ocular, developmental and muscle findings, each present, absent or unassessed", "why_it_matters": "Supports complication assessment and the OCRL-related diagnostic boundary." }, { "name": "Family expression", "kind": "relation", "unit_or_values": "pedigree relationship, tested genotype, documented phenotype and assessment date", "why_it_matters": "Separates inherited status, clinical expression and untested relatives." } ], "affordances": [ "Assemble a Dent-specific evidence profile and identify missing urine, genetic or imaging assessments.", "Compare a diagnostic assertion with its named criteria and retain discordant evidence.", "Flag unresolved distinctions from Lowe syndrome, other tubulopathies and glomerular protein loss.", "Track renal function, stones, tubular losses and skeletal consequences over time.", "Prepare evidence-linked questions for nephrology and genetics review.", "Evaluate proposed monitoring or treatment against its intended endpoint, evidence and observed adverse effects." ], "agent_conduct": { "may": [ "Describe Dent disease from clinical and genetic sources, stating that it is rare and variable.", "Point patients and families to nephrologists, geneticists and rare disease organizations." ], "must_not": [ "Diagnose a person with Dent disease from symptoms or test results without a clinician.", "Recommend or change treatment for a person's kidney condition.", "Disclose a person's diagnosis or genetic status to anyone without their consent.", "Use a family's genetic results to judge relatives who have not been tested." ], "requires_human": [ "Any decision about genetic testing of children or relatives." ] }, "ethics": { "considerations": [ "Genetic diagnoses affect whole families and raise questions of consent and of what relatives want to know.", "Rare diseases are often missed; people need accurate information without false reassurance." ], "affected_parties": [ "People with Dent disease", "Their families and carriers", "Clinicians" ] }, "owners": { "steward": "Nobody owns the condition; the treating clinician answers for each patient's care.", "master_systems": [ "Rare disease patient registries" ] }, "failure_modes_and_hazards": [ "Progressive kidney disease can lead to kidney failure.", "Kidney stones and calcium deposits cause pain and damage to the kidneys." ], "what_it_is_for": [ "Dent disease is considered in nephrology and clinical genetics when inherited proximal tubular dysfunction is suspected.", "The concept helps clinicians interpret combinations of urinary protein abnormalities, excess urinary calcium, kidney calcification and family history.", "It is also used in research and longitudinal care to describe variable renal consequences and distinguish related inherited disorders." ], "standards_and_regulation": [ "The Orphanet rare disease nomenclature, maintained by Orphanet and coordinated by the French National Institute of Health and Medical Research, includes Dent disease." ], "facets_not_applicable": { "recognition": "Dent disease has no distinctive outward appearance and is identified through clinical assessment and laboratory or genetic evidence." } }, "sources": [ { "id": "wikidata", "title": "Wikidata item Q4420121: Dent disease", "url": "https://www.wikidata.org/wiki/Q4420121", "url_status": "live", "what_it_supports": "identity and sense of the item", "checked_by": "wikidata-api" }, { "id": "wikipedia-en", "title": "Wikipedia: Dent's disease", "url": "https://en.wikipedia.org/wiki/Dent%27s_disease", "url_status": "live", "what_it_supports": "general description of the item", "checked_by": "wikidata-api sitelink" } ], "structure": { "bundles": [ { "id": "diagnostic-identity", "name": "Diagnostic identity and boundaries", "description": "Defines what counts as Dent disease and how individual diagnostic assertions are justified.", "rationale": "A disease label, a renal phenotype and a molecular result are related but distinct evidence objects.", "layers": [ { "id": "recognition-framework", "name": "Recognition framework", "description": "Captures the source and application of diagnostic criteria.", "findings": [ { "id": "criteria-and-certainty", "name": "Criteria and diagnostic certainty", "description": "Record the issuing group, publication version, applicable population and evidence supporting the assertion.", "questions": [ { "text": "Which named and dated diagnostic framework supports this Dent disease assertion?", "kind": "provenance", "id": "criteria-and-certainty-q01" }, { "text": "How does that framework handle persistent tubular proteinuria when hypercalciuria or an identified causal variant is absent?", "kind": "boundary", "id": "criteria-and-certainty-q02" } ] } ] }, { "id": "differential-and-coding", "name": "Differential diagnosis and coding", "description": "Maintains neighbouring disease boundaries and traceable terminology mappings.", "findings": [ { "id": "phenotype-boundaries", "name": "Competing explanations", "description": "Require explicit consideration of other causes of tubular protein loss and OCRL-related disease.", "questions": [ { "text": "What evidence distinguishes this presentation from Lowe syndrome, another inherited tubulopathy or acquired proximal tubular injury?", "kind": "boundary", "id": "phenotype-boundaries-q01" }, { "text": "Has the protein-loss pattern been characterised sufficiently to evaluate a competing glomerular disorder?", "kind": "measurement", "id": "phenotype-boundaries-q02" } ] }, { "id": "versioned-code-mapping", "name": "Versioned disease identifiers", "description": "Link verified terminology concepts while preserving differences in specificity.", "questions": [ { "text": "Which ICD-10 jurisdictional edition, ICD-11 release and SNOMED CT edition contain applicable concepts?", "kind": "provenance", "id": "versioned-code-mapping-q01" }, { "text": "Does each verified code denote Dent disease, a subtype or only a broader renal tubular disorder?", "kind": "boundary", "id": "versioned-code-mapping-q02" } ] } ] } ] }, { "id": "molecular-and-family-evidence", "name": "Molecular cause and family expression", "description": "Organises subtype evidence, testing limitations and inheritance.", "rationale": "Genetic findings can establish subtype, remain inconclusive or require reinterpretation.", "layers": [ { "id": "subtype-resolution", "name": "Subtype resolution", "description": "Connects the proposed subtype to an interpretable laboratory result.", "findings": [ { "id": "variant-interpretation", "name": "Variant and test interpretation", "description": "Capture variant classification and assay scope separately from clinical compatibility.", "questions": [ { "text": "What reported CLCN5 or OCRL finding supports subtype assignment, and who classified it on what date?", "kind": "provenance", "id": "variant-interpretation-q01" }, { "text": "What variant classes and genomic regions were assessed, and what remains unresolved after a negative or uncertain result?", "kind": "boundary", "id": "variant-interpretation-q02" } ] } ] }, { "id": "inheritance-and-expression", "name": "Inheritance and variable expression", "description": "Records pedigree evidence without treating genotype as a complete phenotype.", "findings": [ { "id": "family-phenotype", "name": "Family genotype and phenotype", "description": "Distinguish affected, asymptomatic, untested and incompletely assessed relatives.", "questions": [ { "text": "Which pedigree observations support X-linked transmission, and which relatives have confirmatory testing?", "kind": "provenance", "id": "family-phenotype-q01" }, { "text": "What renal findings have actually been assessed in variant-positive relatives, including females?", "kind": "measurement", "id": "family-phenotype-q02" }, { "text": "Which unresolved family findings warrant genetics review or discussion of cascade testing?", "kind": "action", "id": "family-phenotype-q03" } ] } ] } ] }, { "id": "tubular-phenotype", "name": "Proximal tubular phenotype", "description": "Defines the measurements needed to characterise tubular protein loss and solute handling.", "rationale": "Urine results require assay, specimen and age context before they can support recognition.", "layers": [ { "id": "protein-loss-characterisation", "name": "Protein-loss characterisation", "description": "Separates measured tubular proteins from total protein and albumin.", "findings": [ { "id": "persistent-lmw-proteinuria", "name": "Persistent low-molecular-weight proteinuria", "description": "Record analyte identity, repeat findings and sample validity.", "questions": [ { "text": "Which low-molecular-weight proteins were measured, with what ratios, units and reference intervals?", "kind": "measurement", "id": "persistent-lmw-proteinuria-q01" }, { "text": "Do repeat samples support persistence, and could urine pH, storage or assay limitations affect interpretation?", "kind": "measurement", "id": "persistent-lmw-proteinuria-q02" } ] } ] }, { "id": "calcium-and-solute-handling", "name": "Calcium and other solute handling", "description": "Records calcium excretion and the extent of associated tubular losses.", "findings": [ { "id": "calcium-excretion-context", "name": "Interpretable urinary calcium", "description": "Preserve sampling method and the context used to classify calcium excretion.", "questions": [ { "text": "Was calcium measured by timed collection or spot ratio, and which age-specific threshold was applied?", "kind": "measurement", "id": "calcium-excretion-context-q01" }, { "text": "What kidney function, dietary intake and treatment exposures accompanied the measurement?", "kind": "provenance", "id": "calcium-excretion-context-q02" } ] }, { "id": "additional-tubular-losses", "name": "Extent of tubular dysfunction", "description": "Characterise individual transport abnormalities without assuming all are present.", "questions": [ { "text": "Which phosphate, bicarbonate, glucose, amino acid or electrolyte losses are demonstrated?", "kind": "measurement", "id": "additional-tubular-losses-q01" }, { "text": "Which paired blood and urine measurements are needed to distinguish renal wasting from other explanations?", "kind": "action", "id": "additional-tubular-losses-q02" } ] } ] } ] }, { "id": "course-and-complications", "name": "Course and complications", "description": "Tracks renal progression and associated skeletal or extrarenal findings.", "rationale": "Diagnostic features and measures of current disease burden serve different purposes.", "layers": [ { "id": "renal-trajectory", "name": "Renal trajectory", "description": "Connects serial filtration measurements with calcification and stone events.", "findings": [ { "id": "filtration-and-calcification", "name": "Kidney function and calcification burden", "description": "Record progression with dated measurements and distinguish chronic changes from acute events.", "questions": [ { "text": "What do serial eGFR measurements show when equation changes and acute illness are accounted for?", "kind": "measurement", "id": "filtration-and-calcification-q01" }, { "text": "What imaging demonstrates nephrocalcinosis or stones, and have obstruction or symptomatic stone events occurred?", "kind": "measurement", "id": "filtration-and-calcification-q02" }, { "text": "Is the recorded stage a versioned CKD classification or a separately validated Dent-specific staging system?", "kind": "boundary", "id": "filtration-and-calcification-q03" } ] } ] }, { "id": "skeletal-and-extrarenal-course", "name": "Skeletal and extrarenal course", "description": "Links growth and skeletal findings to measured abnormalities while retaining subtype-relevant observations.", "findings": [ { "id": "growth-bone-and-ocrl-features", "name": "Growth, bone and extrarenal findings", "description": "Separate documented complications from unassessed features and competing diagnoses.", "questions": [ { "text": "What growth, fracture, skeletal examination or imaging findings accompany the phosphate and mineral measurements?", "kind": "measurement", "id": "growth-bone-and-ocrl-features-q01" }, { "text": "Do ocular, developmental or muscle findings require reassessment of an OCRL-related diagnostic label?", "kind": "boundary", "id": "growth-bone-and-ocrl-features-q02" } ] } ] } ] }, { "id": "management-and-evidence-limits", "name": "Management decisions and evidence limits", "description": "Structures specialist decisions and the limits of population-level knowledge.", "rationale": "An agent must distinguish a proposed intervention, its physiological effect and evidence of meaningful benefit.", "layers": [ { "id": "monitoring-and-intervention", "name": "Monitoring and intervention appraisal", "description": "Connects a proposed action to a specific Dent-related problem and observable outcome.", "findings": [ { "id": "intervention-purpose-and-review", "name": "Intervention purpose and review", "description": "Require an explicit indication, supporting evidence and safety monitoring for each proposal.", "questions": [ { "text": "For proposed thiazide, citrate or mineral replacement therapy, what problem is being targeted and which recommendation supports its use?", "kind": "action", "id": "intervention-purpose-and-review-q01" }, { "text": "How will response and adverse changes in volume status, electrolytes, kidney function or urinary calcium be evaluated?", "kind": "measurement", "id": "intervention-purpose-and-review-q02" }, { "text": "Does the evidence concern a laboratory endpoint, fewer stone events or slower kidney function decline?", "kind": "boundary", "id": "intervention-purpose-and-review-q03" } ] } ] }, { "id": "population-and-prognostic-evidence", "name": "Population and prognostic evidence", "description": "Defines the provenance needed for prevalence and outcome estimates.", "findings": [ { "id": "cohort-applicability", "name": "Cohort applicability", "description": "Record ascertainment and follow-up so selected cohorts are not mistaken for universal prognosis.", "questions": [ { "text": "For each prevalence or outcome estimate, what population, geography, calendar period, denominator and case definition were used?", "kind": "provenance", "id": "cohort-applicability-q01" }, { "text": "How do age, sex, molecular subtype, referral selection and follow-up completeness limit its application?", "kind": "boundary", "id": "cohort-applicability-q02" } ] } ] } ] }, { "id": "evidence-and-external-alignment", "name": "Evidence and external alignment", "description": "What the world already says about this thing, gathered so the model can be checked against it.", "rationale": "A model that cannot be lined up against existing standards, identifiers and practice cannot be adopted by anyone who already uses them.", "layers": [ { "id": "reported-evidence", "name": "Reported evidence", "description": "Findings from the breadth pass, kept separate from the structural claims.", "findings": [ { "id": "evidence-confidence-notes", "name": "Check these first", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "This is recall-based information; no sources were consulted. Verify disease coding and any formal diagnostic criteria against their issuing body and revision before use.", "Some clinically compatible cases lack an identified pathogenic variant in CLCN5 or OCRL; negative testing does not automatically exclude the clinical diagnosis.", "Males are usually more severely affected, while heterozygous females may show renal abnormalities; severity and progression vary, and no prevalence estimate or fixed staging system is asserted here." ], "questions": [ { "id": "evidence-confidence-notes-q01", "text": "Which of these check these first hold for the sense of Dent disease this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-kinds", "name": "Kinds and varieties", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "Dent disease type 1, associated with pathogenic variants in CLCN5", "Dent disease type 2, associated with pathogenic variants in OCRL" ], "questions": [ { "id": "evidence-kinds-q01", "text": "Which of these kinds and varieties hold for the sense of Dent disease this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-identifiers", "name": "Identifiers and schemes", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ { "scheme": "OMIM", "value_or_pattern": "300009", "note": "Dent disease type 1; this identifier does not cover every molecular form." }, { "scheme": "HGNC gene symbols", "value_or_pattern": "CLCN5; OCRL", "note": "Identifiers for the principal associated genes, not identifiers for the disease itself." } ], "questions": [ { "id": "evidence-identifiers-q01", "text": "Which of these identifiers and schemes hold for the sense of Dent disease this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-real-world-use", "name": "Real-world use", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "Recognition of an inherited proximal tubular disorder in patients with low-molecular-weight proteinuria, hypercalciuria or nephrocalcinosis.", "Molecular testing to distinguish CLCN5-associated and OCRL-associated disease.", "Assessment of relatives and genetic counselling concerning X-linked inheritance.", "Longitudinal monitoring of kidney function, stone burden and mineral metabolism." ], "questions": [ { "id": "evidence-real-world-use-q01", "text": "Which of these real-world use hold for the sense of Dent disease this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-measurements", "name": "Typical measurements", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ { "quantity": "Urinary low-molecular-weight protein excretion", "typical_range": "Elevated; interpretation depends on the protein measured, assay and age-specific reference interval.", "unit": "Commonly expressed as a protein-to-creatinine ratio" }, { "quantity": "Urinary calcium excretion", "typical_range": "Frequently elevated; interpretation depends on age and whether a timed collection or spot sample is used.", "unit": "mg/kg/day or a calcium-to-creatinine ratio" }, { "quantity": "Estimated glomerular filtration rate", "typical_range": "May be preserved early and decline with disease progression; no single disease-specific range.", "unit": "mL/min/1.73 m²" } ], "questions": [ { "id": "evidence-measurements-q01", "text": "Which of these typical measurements hold for the sense of Dent disease this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-failure-modes-and-hazards", "name": "Failure modes and hazards", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ "Progressive chronic kidney disease, sometimes reaching kidney failure.", "Nephrocalcinosis and recurrent kidney stones.", "Phosphate wasting with rickets or osteomalacia in some affected individuals.", "Misclassification of substantial tubular proteinuria as a primary glomerular disorder.", "Missed diagnosis when hypercalciuria or kidney stones are absent." ], "questions": [ { "id": "evidence-failure-modes-and-hazards-q01", "text": "Which of these failure modes and hazards hold for the sense of Dent disease this model covers, and on what evidence?", "kind": "provenance" } ] }, { "id": "evidence-neighbours", "name": "Neighbouring kinds and how to tell them apart", "description": "Recalled without web access and unsourced; every item is a lead to verify.", "evidence": [ { "name": "Lowe syndrome", "difference": "Also associated with OCRL variants, but the classic phenotype includes congenital cataracts and prominent neurological involvement alongside proximal tubular dysfunction; the phenotypic boundary can overlap." }, { "name": "Fanconi syndrome", "difference": "A pattern of generalized proximal tubular solute wasting with many possible causes; Dent disease is a specific inherited disorder and does not always produce the complete Fanconi pattern." }, { "name": "Idiopathic hypercalciuria", "difference": "Hypercalciuria alone does not establish Dent disease; marked low-molecular-weight proteinuria and compatible genetic findings support Dent disease." }, { "name": "Glomerular proteinuria", "difference": "Glomerular disease generally produces predominantly albuminuria, whereas Dent disease characteristically impairs proximal tubular reclamation of low-molecular-weight proteins." } ], "questions": [ { "id": "evidence-neighbours-q01", "text": "Which of these neighbouring kinds and how to tell them apart hold for the sense of Dent disease this model covers, and on what evidence?", "kind": "provenance" } ] } ] } ] } ] }, "openQuestions": [ "Which current diagnostic recommendations should govern recognition when hypercalciuria is absent or molecular testing is unresolved?", "Which verified ICD-10, ICD-11 and SNOMED CT concepts map precisely to Dent disease and its subtypes in the intended jurisdiction and release?", "What population-based prevalence estimates adequately include mild disease and affected females, with explicit population and year?", "How reliably can genotype and early renal measurements predict progression, and is any Dent-specific staging system sufficiently validated?", "Which interventions improve stone events or long-term kidney outcomes, and how strong is the evidence for their safety and benefit?" ], "statistics": { "bundles": 6, "layers": 11, "findings": 19, "questions": 34 } }