Hemolytic uremic syndrome with DGKE deficiency is a rare genetic disorder that affects the kidneys and red blood cells. It is caused by a deficiency in the enzyme diacylglycerol kinase epsilon (DGKE). People with this disorder experience hemolytic anemia (destruction of red blood cells) and thrombotic thrombocytopenic purpura (TTP), which can lead to kidney failure. Treatment typically involves supportive care, such as dialysis, and medications to reduce the risk of further complications.

The symptoms of Hemolytic Uremic Syndrome (HUS) with DGKE deficiency can vary depending on the severity of the condition. Common symptoms include:

-Anemia (low red blood cell count)
-Fatigue
-Pale skin
-Shortness of breath
-Dark urine
-Abdominal pain
-Nausea and vomiting
-Diarrhea
-Fever
-Jaundice (yellowing of the skin and eyes)
-Swelling of the hands, feet, and face
-Confusion
-Seizures
-Coma

Hemolytic uremic syndrome (HUS) with DGKE deficiency is a rare genetic disorder caused by mutations in the DGKE gene. This gene provides instructions for making an enzyme called diacylglycerol kinase epsilon (DGKE). This enzyme is involved in the production of a molecule called diacylglycerol, which is important for normal cell signaling. Mutations in the DGKE gene lead to a deficiency of this enzyme, which can cause a buildup of diacylglycerol in the body and lead to the development of HUS.

The primary treatment for Hemolytic Uremic Syndrome (HUS) with DGKE deficiency is supportive care. This includes monitoring of vital signs, hydration, and electrolyte balance, as well as dialysis if needed. Other treatments may include plasma exchange, antibiotics, and medications to reduce inflammation. In some cases, a bone marrow transplant may be recommended.

1. Age: Hemolytic uremic syndrome with DGKE deficiency is most common in children under the age of 5.

2. Family history: Having a family history of DGKE deficiency increases the risk of developing Hemolytic uremic syndrome.

3. Certain infections: Certain bacterial infections, such as E. coli, can increase the risk of developing Hemolytic uremic syndrome with DGKE deficiency.

4. Certain medications: Certain medications, such as antibiotics, can increase the risk of developing Hemolytic uremic syndrome with DGKE deficiency.

5. Certain medical conditions: Certain medical conditions, such as kidney disease, can increase the risk of developing Hemolytic uremic syndrome with DGKE deficiency.

There is no cure for Hemolytic Uremic Syndrome (HUS) with DGKE deficiency. However, medications can be used to help manage the symptoms. These include medications to reduce inflammation, antibiotics to prevent infection, and medications to reduce the risk of blood clots. In some cases, a blood transfusion may be necessary.