Introduction Kartagener Syndrome (KS), an autosomal recessive disorder, subgroup of primary ciliary dyskinesia, is characterised by situs inversus, bronchiectasis and chronic sinusitis.
Objective To report a case of KS and associated nephropathy, diagnosed at 6 years in Hospital Alcides Carneiro (HEAC).
Method Descriptive and observational evolution of MESF, hospitalised in the paediatric ward of the HEAC, with abdominal pain and nephritic proteinuria. Clinical diagnosis of SK was established only at 6 years, despite dextrocardia diagnosed at 3 months and several subsequent hospitalizations due to respiratory infections. Nephritis was identified at 4 years, slowly progressive and without specific etiological cause determinated. Tomography showed bronchiectasis and situs inversus totallis. No identifiable chromosomal abnormalities seen in conventional karyotyping and no molecular study could be performed. Clinical diagnosis, however, made possible hearing loss and lung infections prophylaxis and genetic counselling. Although there are some reports of genitourinary abnormalities associated with SK, it’s important to determine if KS is the specific cause of nephropathy, due the intimate relationship of other ciliopathys with renal disease, as observed in Bardet-Biedl syndrome and Meckel syndrome. In this patient the aetiology of nephropathy is unclear so far, and most common causes have been discarded.
Conclusion Factors such as low incidence estimated at 1:17000 births and pathophysiological complexity are considered contributory to late diagnosis, worsening of pulmonary disease and consequently worse prognosis. We couldn’t perform molecular diagnosis in the several genes related to SK, which could provide preimplantation diagnosis and establish the best genotype-phenotype, especially in correlation with nephropathy.