n engl j med 368;13 nejm.org march 28, 2013 1257 macrophage activation syndrome. In animals, high levels of interleukin-6 contribute to the triggering of this syndrome1; additional cytokines, including interferon-γ, interleukin-1, and interleukin-18, might be involved in maintaining and amplifying the inflammatory response.2 Indeed, interleukin-1 antagonism may be beneficial in a full-blown cas...

Unilateral and segmental localised polycystic disease is a rare type of cystic disease of the kidney. It takes the form of a segmental cystic abnormality in one kidney morphologically identical to the autosomal dominant adult form of polycystic kidney disease. The clinical, radiological, and pathological appearances of a case are described. The differential diagnosis and a possible pathogenic m...

Polycystic liver disease is an autosomal dominant disorder commonly associated with autosomal dominant polycystic kidney disease. It is a rare disease that usually occurs asymptomatically in 85% of cases and diagnosis is incidentally. We present the case of 57 years old woman with progressive pruritus and jaundice secondary to stenosis of the common hepatic duct and common bile by liver cyst, r...

The genetic locus for autosomal dominant adult polycystic kidney disease was recently assigned to chromosome 16 by the finding of genetic linkage to the alpha globin gene cluster. Further study showed that the phosphoglycolate phosphatase locus is also closely linked to both the locus for adult polycystic kidney disease and the alpha globin gene cluster. These findings have important implicatio...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary disorder (estimated prevalence of 1 per 1000–1 2500 live births)1 characterized by development and growth multiple bilateral cysts eventually leading to end-stage renal replacement therapy.1

The association of congenital hepatic fibrosis (CHF) with autosomal recessive polycystic kidney disease (ARPKD) is well known and occurs in approximately 50% of cases. However the association of CHF with autosomal dominant polycystic kidney disease (ADPKD) is less well known and less well documented. We report a child with neonatal onset of hypertension due to ADPKD who later develops portal hy...