Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease

What is the cause of Hepatocyte nuclear factor 1 Beta (HNF1B)-associated disease?

HNF1B-associated disease is caused by a mistake (mutation) in the HNF1B _gene, which is responsible for making a protein that is involved in the early development of many different organs within the body. Mutations in the _HNF1B gene can cause abnormal development of the kidneys, pancreas, parathyroid gland and liver.

Last updated on 05-01-20

How is Hepatocyte nuclear factor 1 Beta (HNF1B)-associated disease diagnosed?

The diagnosis of HNF1B-associated disease is made based on the symptoms and genetic testing. A family history of kidney disease, diabetes or gout at an early age may be helpful, but many people with HNF1B-associated disease are the first person in their family to have the diagnosis. Laboratory testing may include blood tests to monitor kidney function, check for diabetes, and measure magnesium and calcium.

Last updated on 05-01-20

How is hepatocyte nuclear factor 1 Beta-associated disease inherited?

HNF1B-associated disease can be inherited in an autosomal dominant pattern. All individuals inherit two copies of each gene. In autosomal dominant conditions, having a mutation in just one copy of the associated [ HNF1B ] gene causes the person to have the disease. Many people who have HNF1B-associated disease are born with this condition due to a new genetic mutation (de novo) and do not have a history of this condition in their family. There is nothing either parent can do, before or during pregnancy, to cause a child to have this.

Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the HNF1B mutation and HNF1B-associated disease. Children who inherit the HNF1B mutation will have HNF1B-associated disease, although they could be more or less severely affected than their parent.

Last updated on 05-01-20

What is the long-term outlook for people with hepatocyte nuclear factor 1 Beta (HNF1B)-associated disease?

The long-term outlook for people with HNF1B-associated disease varies based on the severity of the symptoms. Early diagnosis may be helpful for children with this condition.

Last updated on 05-01-20

How many people have hepatocyte nuclear factor 1 Beta (HNF1B)-associated disease?

The exact prevalence of HNF1B-associated disease is difficult to estimate. Renal cysts and diabetes may occur is about 1-9/1,000,000 people.

Last updated on 05-01-20

How might hepatocyte nuclear factor 1 Beta (HNF1B)-associated disease be treated?

There is no specific treatment for HNF1B-associated disease. Treatment is based on individual symptoms. Kidney disease can be managed with dialysis. Kidney transplant is an option for treating kidney failure. Some people with this condition may also benefit from a pancreas transplant. Gout can be prevented with certain medications (allopurinol or febuxostat) or managed with nonsteroidal anti-inflammatories. Diabetes can be managed with medication and diet.

Last updated on 05-01-20

Name: National Kidney Foundation 30 East 33rd Street
New York, NY, 10016, United States
Phone: 212-889-2210 Toll Free: 800-622-9010 Fax : 212-689-9261 Email: info@kidney.org Url: https://www.kidney.org/
Verhave JC, Bech AP, Wetzels JFM, Nijenhuis T. Hepatocyte Nuclear Factor 1ß–Associated Kidney Disease: More than Renal Cysts and Diabetes J Am Soc Nephrol. Feb 2016; 25(2). 345-353. Reference Link Bockenhauer D, Jaureguiberry G. HNF1B-associated clinical phenotypes: the kidney and beyond Ped Nephr. May 2016; 31(5). 707-714. Reference Link Owen K. Renal Cyst and Diabetes syndrome Orphanet. Nov 2014; Reference Link Van der Made CI, Hoorn HJ, de la Faille R, Karaasian H, Knower NV, Hoenderop JG, Vargas Poussou R, de Baaij JH. Hypomagnesemia as first clinical manifestation of ADTKD-HNF1B: A case series and literature review Am J Nephrol. 2015; 42(1). 85-90. Reference Link Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O. Kidney Disease: Improving Global Outcomes. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report Kidney Int. Oct 2015; 88(4). 676-683. Reference Link

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