Dent disease

Criteria and diagnostic certainty

Record the issuing group, publication version, applicable population and evidence supporting the assertion.

1. Which named and dated diagnostic framework supports this Dent disease assertion? provenance
2. How does that framework handle persistent tubular proteinuria when hypercalciuria or an identified causal variant is absent? boundary

Competing explanations

Require explicit consideration of other causes of tubular protein loss and OCRL-related disease.

1. What evidence distinguishes this presentation from Lowe syndrome, another inherited tubulopathy or acquired proximal tubular injury? boundary
2. Has the protein-loss pattern been characterised sufficiently to evaluate a competing glomerular disorder? measurement

Versioned disease identifiers

Link verified terminology concepts while preserving differences in specificity.

1. Which ICD-10 jurisdictional edition, ICD-11 release and SNOMED CT edition contain applicable concepts? provenance
2. Does each verified code denote Dent disease, a subtype or only a broader renal tubular disorder? boundary

Variant and test interpretation

Capture variant classification and assay scope separately from clinical compatibility.

1. What reported CLCN5 or OCRL finding supports subtype assignment, and who classified it on what date? provenance
2. What variant classes and genomic regions were assessed, and what remains unresolved after a negative or uncertain result? boundary

Family genotype and phenotype

Distinguish affected, asymptomatic, untested and incompletely assessed relatives.

1. Which pedigree observations support X-linked transmission, and which relatives have confirmatory testing? provenance
2. What renal findings have actually been assessed in variant-positive relatives, including females? measurement
3. Which unresolved family findings warrant genetics review or discussion of cascade testing? action

Persistent low-molecular-weight proteinuria

Record analyte identity, repeat findings and sample validity.

1. Which low-molecular-weight proteins were measured, with what ratios, units and reference intervals? measurement
2. Do repeat samples support persistence, and could urine pH, storage or assay limitations affect interpretation? measurement

Interpretable urinary calcium

Preserve sampling method and the context used to classify calcium excretion.

1. Was calcium measured by timed collection or spot ratio, and which age-specific threshold was applied? measurement
2. What kidney function, dietary intake and treatment exposures accompanied the measurement? provenance

Extent of tubular dysfunction

Characterise individual transport abnormalities without assuming all are present.

1. Which phosphate, bicarbonate, glucose, amino acid or electrolyte losses are demonstrated? measurement
2. Which paired blood and urine measurements are needed to distinguish renal wasting from other explanations? action

Kidney function and calcification burden

Record progression with dated measurements and distinguish chronic changes from acute events.

1. What do serial eGFR measurements show when equation changes and acute illness are accounted for? measurement
2. What imaging demonstrates nephrocalcinosis or stones, and have obstruction or symptomatic stone events occurred? measurement
3. Is the recorded stage a versioned CKD classification or a separately validated Dent-specific staging system? boundary

Growth, bone and extrarenal findings

Separate documented complications from unassessed features and competing diagnoses.

1. What growth, fracture, skeletal examination or imaging findings accompany the phosphate and mineral measurements? measurement
2. Do ocular, developmental or muscle findings require reassessment of an OCRL-related diagnostic label? boundary

Intervention purpose and review

Require an explicit indication, supporting evidence and safety monitoring for each proposal.

1. For proposed thiazide, citrate or mineral replacement therapy, what problem is being targeted and which recommendation supports its use? action
2. How will response and adverse changes in volume status, electrolytes, kidney function or urinary calcium be evaluated? measurement
3. Does the evidence concern a laboratory endpoint, fewer stone events or slower kidney function decline? boundary

Cohort applicability

Record ascertainment and follow-up so selected cohorts are not mistaken for universal prognosis.

1. For each prevalence or outcome estimate, what population, geography, calendar period, denominator and case definition were used? provenance
2. How do age, sex, molecular subtype, referral selection and follow-up completeness limit its application? boundary

Check these first

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these check these first hold for the sense of Dent disease this model covers, and on what evidence? provenance

Kinds and varieties

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these kinds and varieties hold for the sense of Dent disease this model covers, and on what evidence? provenance

Identifiers and schemes

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these identifiers and schemes hold for the sense of Dent disease this model covers, and on what evidence? provenance

Real-world use

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these real-world use hold for the sense of Dent disease this model covers, and on what evidence? provenance

Typical measurements

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these typical measurements hold for the sense of Dent disease this model covers, and on what evidence? provenance

Failure modes and hazards

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these failure modes and hazards hold for the sense of Dent disease this model covers, and on what evidence? provenance

Neighbouring kinds and how to tell them apart

Recalled without web access and unsourced; every item is a lead to verify.

1. 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? provenance