菜单
Determines when to pursue genetic testing for glucocorticoid-remediable aldosteronism (FH-I/GRA) in patients with confirmed primary aldosteronism (PA). Indicated when PA onset is before age 20 or there is a family history of PA or stroke before age 40.
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For a person with confirmed islet autoantibodies (early-stage type 1 diabetes), state the numerical progression risk to Stage 3 T1D by stage and age, set the age-stratified monitoring frequency (metabolic and HbA1c), apply the ≥10% longitudinal HbA1c rise → OGTT rule, and give the standard risk-modifier and communication framing. Use when a clinician asks how often should I monitor this Stage 1 child, what's the risk of this teenager progressing to insulin, adult with GAD positive what's the 5-year risk, my patient's HbA1c has risen 12% is that important, single autoantibody how often to retest, or how to counsel a family about progression risk. Grounded in Phillip et al. Diabetologia 2024 international staging and monitoring consensus, cross-referenced with Hussain et al 2026 IDF Europe roadmap.
Order and confirm islet autoantibody screening for early-stage type 1 diabetes — which antibodies to test (GAD65, IAA, IA2, ZnT8), sample types (capillary dried blood spot, venous), the mandatory two-sample two-method confirmation protocol, and how to interpret a positive, negative, or single-antibody result. Use when a clinician asks how to screen for early T1D, which islet autoantibodies to order, how to confirm a positive T1D antibody screen, is one autoantibody enough for T1D diagnosis, GAD antibody positive what next, or is running a general population or family-history T1D screening program. Grounded in Hussain et al 2026 (Diabetes, Obesity and Metabolism, IDF Europe consensus, DOI 10.1111/dom.70569).
Classify a person with a positive islet autoantibody screen into a specific stage of type 1 diabetes (At Risk / Stage 1 / Stage 2a / Stage 2b / Stage 3a / Stage 3b / Stage 4) using the international consensus staging framework based on autoantibody count and glycaemic status. Use when a clinician asks how to stage a positive autoantibody screen, what stage of T1D is this, is this early-stage T1D, does this child need insulin yet, is this presymptomatic T1D, does this qualify for teplizumab, or presents a person with any combination of islet autoantibodies + glucose data. Applies across paediatric and adult populations. Grounded in Hussain et al 2026 (Diabetes, Obesity and Metabolism, IDF Europe consensus, DOI 10.1111/dom.70569).
基于 SOC 职业分类
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| name | esa-pa-test-fhi |
| description | Determines when to pursue genetic testing for glucocorticoid-remediable aldosteronism (FH-I/GRA) in patients with confirmed primary aldosteronism (PA). Indicated when PA onset is before age 20 or there is a family history of PA or stroke before age 40. |
Confirm PA diagnosis via positive ARR and a confirmatory test; record patient's age at PA onset; obtain family history of PA or early-onset stroke (<40 years).
Is PA onset <20 years OR is there a family history of PA or stroke before age 40? If yes, proceed to Step 3; if no, FH-I testing is not routinely indicated.
Classify as FH-I suspected when either criterion is met; prioritize testing if both early onset and family history are present.
Offer genetic testing for the CYP11B1/CYP11B2 chimeric gene (FH-I/GRA) and consider a low-dose glucocorticoid trial to assess biochemical response.
Do not test for FH-I in PA diagnosed after age 20 without family history; avoid confusing FH-I with FH-II or FH-III, which have different inheritance and glucocorticoid responsiveness; ensure PA is confirmed before genetic workup; note that glucocorticoid suppression can support diagnosis but genetic testing is definitive.
An 18‑year‑old with hypertension, spontaneous hypokalemia, ARR 45, and post‑saline infusion PAC 18 ng/dL confirms PA; father had a hemorrhagic stroke at age 38. FH-I suspicion is high, prompting genetic testing for the CYP11B1/CYP11B2 chimera.
Source: The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline, Endocrine Society, 2016, DOI:10.1210/jc.2015-4061