Medicatieherziening en multidisciplinaire zorg optimaliseren zwangerschapszorg bij monogene nierziekten

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.