{"id":39,"title":"Reproductive Health in Monogenic Kidney Disease: Practical Guidance for Fertility, Genetic Counseling, and Pregnancy Care","title_zh":"单基因肾病的生殖健康：生育、遗传咨询与妊娠照护的实用指导","url":"https://pubmed.ncbi.nlm.nih.gov/42993606","doi":"10.2215/cjn.0000001285","pmid":"42993606","journal":"Clin J Am Soc Nephrol","kind":"paper","lang":"en","published_at":"2026-11-06T00:00:00+00:00","fetched_at":"2026-11-08T03:43:52+00:00","authors":["Lobo AS","Norouzi S","Shah S"],"primary_topic":"contraception-health","topics":[{"slug":"contraception-health","score":4.0,"hits":["contraception","reproductive health"]},{"slug":"pgt","score":2.0,"hits":["pgt-m","preimplantation genetic"]},{"slug":"art-clinical","score":1.0,"hits":["assisted reproduction"]},{"slug":"early-pregnancy","score":1.0,"hits":["preeclampsia"]}],"topic_score":4.0,"preference_score":0.0,"preference_labels":[],"llm_score":64.0,"final_score":64.0,"score_dims":{"novelty":45,"rigor":45,"impact":58,"relevance":62,"translation":66},"recommend_reason":"对单基因肾病育龄患者的孕前用药调整、遗传咨询与 PGT-M 指征给出可操作的跨学科框架，临床实用性强；但为叙述性综述、无原始数据，且核心属肾脏病学，生殖医学读者可按需浏览。","keywords":["单基因肾病","孕前咨询","植入前遗传学检测(PGT-M)","妊娠管理","遗传咨询","致畸药物"],"selected":1,"story_id":37,"llm_provider":"deepseek","llm_model":"deepseek-flash","llm_effort":"low","source_key":"pubmed-art","source_name":"PubMed · 辅助生殖临床","source_tier":1,"mention_count":2,"has_interpretation":false,"journal_key":null,"journal_tier":"unknown","journal_if":null,"is_mock":false,"summary_zh":"本文为综述，以常染色体显性多囊肾病、Alport 谱系疾病、Fabry 病及单基因足细胞病（FSGS）四类单基因肾病为范例，梳理育龄患者的生殖健康问题：不仅涉及妊娠，还涵盖生育力、月经与性健康、避孕、辅助生殖、遗传方式咨询与长期共同决策。作者指出，不良母胎结局主要由肾功能下降、慢性高血压、蛋白尿、既往子痫前期及肾外重大疾病驱动，而基因型与遗传方式进一步影响咨询与生殖遗传决策；孕前应完成风险分层、停用或转换 RAS 抑制剂、托伐普坦、SGLT2 抑制剂、霉酚酸酯等致畸药物，并就再发风险、级联检测及产前诊断和 PGT-M 等选项进行遗传咨询。孕期需肾内科、母胎医学与遗传学共管。证据多为回顾性、偏轻症，生育力与男性生殖、新型靶向药生殖安全性等方面尚缺乏数据。","summary":"Monogenic kidney diseases, including autosomal dominant polycystic kidney disease (ADPKD), Alport spectrum disorders, Fabry disease, and monogenic podocytopathies presenting as focal segmental glomerulosclerosis (FSGS), increasingly affect people of reproductive age. Reproductive care extends beyond pregnancy to fertility, menstrual and sexual health, contraception, assisted reproduction, inheritance counseling, and long-term shared decision-making. This review uses these four disease groups to illustrate distinct counseling challenges arising from autosomal dominant, X-linked, autosomal recessive, and genetically heterogenous inheritance, including the underrecognized disease burden in heterozygous women with X-linked Alport syndrome or Fabry's disease. Across diseases, adverse maternal and fetal outcomes are driven primarily by reduced kidney function, chronic hypertension, proteinuria, prior preeclampsia and major extrarenal disease, whereas genotype, inheritance pattern, and syndromic features further shape counseling and reproductive genetic decisions. Preconception counseling should integrate maternal risk stratification; discontinuation or planned transition of fetotoxic agents, such as renin-angiotensin system inhibitors, tolvaptan, SGLT2 inhibitors, mycophenolate, and migalastat; and genetic counseling that addresses recurrence risk, cascade testing, and reproductive options, including prenatal diagnosis and preimplantation genetic testing for monogenic disorders (PGT-M). During pregnancy, close co-management by nephrology, maternal-fetal medicine, and genetics is essential to control blood pressure, provide low-dose aspirin prophylaxis, monitor kidney function and proteinuria, distinguish preeclampsia from progressive glomerular disease, and anticipate disease-specific complications such as cyst infection, intracranial aneurysm, nephrotic syndrome, and cardiac arrhythmia. Postpartum care should include medication re-optimization, breastfeeding counseling, kidney and cardiovascular surveillance, and revisiting contraception and future reproductive goals. Reproductive decision-making should be nondirective and centered on patient values, access to care, and tolerance for uncertainty. Evidence remains limited, largely retrospective, and enriched for milder disease, particularly regarding fertility outcomes, male reproductive implications, the reproductive safety of emerging targeted therapies, and genotype-specific pregnancy risk, underscoring the need for prospective multicenter studies.","interpretation_basis":null,"fulltext_status":null,"interpretation":null,"fulltext":{"available":false,"status":null,"reason":"尚未抓取全文（未入选、分数未达阈值，或还没跑 fulltext 步骤）","pmcid":null,"license":null,"chars":0,"source":null,"fetched_at":null}}