Senior-Boichis syndrome

Senior-Boichis syndrome, also known as Boichis disease or nephronophthisis-hepatic fibrosis syndrome, is a rare disorder characterized by a combination of kidney and liver problems. People with this condition develop congenital nephronophthisis, which affects the kidney and can lead to renal failure, along with hepatic fibrosis, a condition in which the liver develops scarring. In some reported cases, additional features such as tapetoretinal degeneration (affecting the eyes) and intellectual difficulties have been observed. This combination of symptoms has been reported in multiple members of a family, and in one instance, two individuals died from complications related to renal failure. The similarities between the cases have led to the understanding that what was known as Boichis syndrome and Senior-Boichis syndrome might be the same condition.

People with Senior-Boichis syndrome may show signs of kidney problems that can progress to renal failure and liver issues due to hepatic fibrosis. In some cases, there have also been reports of eye problems, such as tapetoretinal degeneration, and intellectual deficits.

The exact causes of Senior-Boichis syndrome are not well understood. The condition appears to run in families, suggesting a potential genetic component, but specific genetic mutations or risk factors have not been identified in the available information.

Information about treatment options is currently limited for this condition.

The outlook for people with Senior-Boichis syndrome can vary. In some families, the kidney problems have led to serious complications including renal failure, with some cases resulting in death. However, the long-term outlook and quality of life details are not well defined in the currently available information.

Information about current research and future directions is currently limited for this condition.