Joubert syndrome combined with multiple hereditary diseases: a case report

Background Joubert syndrome (JS) is a rare autosomal recessive ciliopathy that often overlaps clinically and genetically with other ciliopathies such as nephronophthisis (NPHP), Senior–Løken syndrome (SLSN), and Bardet–Biedl syndrome (BBS). Patients frequently progress to end-stage renal disease (ESRD), but data on kidney transplantation outcomes in individuals with multiple ciliopathy phenotypes remain limited. Case presentation We report a 14-year-old male with developmental delay, insulin-dependent diabetes, anemia, and ESRD, carrying a homozygous NPHP1 deletion and a heterozygous IFT172 nonsense variant. He also had clinical features consistent with JS, BBS, SLSN, and coexisting α-thalassemia. Following cadaveric kidney transplantation and a tacrolimus/mycophenolate-based regimen, the patient demonstrated marked improvements in renal function, growth, hemoglobin level, neurological status, and daily living ability (Barthel index 80→95). Glycemic control required insulin adjustment, while anemia was managed with erythropoietin and iron supplementation. Conclusion This case highlights the efficacy of kidney transplantation in complex ciliopathy phenotypes and expands the phenotypic spectrum associated with combined NPHP1 deletion and IFT172 variants. Multidisciplinary long-term care, tailored immunosuppressive strategies, and genetic counseling are essential for optimizing outcomes in such rare multisystem disorders.