Emanuel Syndrome

and the 11/22 Translocation

Emanuel Syndrome
Kidneys Emanuel Syndrome

Urinary

Urinary system

Kidneys

Many children with Emanuel Syndrome have problems with their kidneys. These essential organs develop in the womb and because the Emanuel Syndrome DNA road map does not always match the norm, small, malformed or single kidneys are often seen. 

Kidney differences are quite common, seen in over 35% of our children. Some children have been born with only one kidney, known as unilateral renal agenesis. 

Others have reported that their kidneys were abnormally small) or did not function well. 

Some have vesicoureteral reflux, which is when urine from the bladder travels in the wrong direction up towards the kidneys via the ureters. It must be treated and monitored to prevent permanent damage to the kidneys.

Other kidney differences we know about in kids with Emanuel Syndrome:
  • Hypoplasia of kidneys  
  • Recurrent UTIs
  • Hydronephrosis
  • Chronic renal insufficiency
  • Hydrouereter

An evaluation of your child’s kidneys should be a routine part of their evaluation shortly after birth.

The kidney’s job is to filter toxins from the body and dispose of them in the urine. They also secrete hormones to help make red blood cells and to keep the right amount of minerals (electrolytes) in your blood. It is worth mentioning that an absent kidney from birth (renal agenesis) is not uncommon in the general population and in many cases the second kidney can compensate. However, sometimes a small solitary kidney cannot successfully rid the body of toxins or produce enough urine and this condition is called renal failure. There are five stages of kidney failure which is determined by a blood test called the eGFR test. 

The symptoms of kidney failure may not be obvious without testing. Fatigue, shortness of breath due to excess fluid buildup, skin irritation, nausea, swelling in the ankles, feet and hands, high blood pressure, and changes in urination. A basic metabolic panel blood test will help your doctor to diagnose, and it is recommended that all young children with ES have an abdominal ultrasound to screen for small or absent kidney, even if there are no symptoms at birth. 

One of the standard tests in the metabolic panel is the creatinine level. Creatinine is a waste product produced by muscle tissue that is normally filtered through the kidneys. When this level is high, it means that this waste product is not being adequately processed out of the body. This level is often used as a baseline. Later testing can use this baseline (along with the eGFR) to indicate whether the kidney function is worsening or not. 

Treatment

Treatment involves many factors as poor kidney function affects other body systems. High blood pressure is a very common symptom that is treated with medication. Since another function of the kidney is to help make red blood cells and balance the minerals in the blood, poor kidney function can affect bone health. Osteoporosis is a complication that needs to be carefully monitored in an ES child with poor renal function.  Calcium and mineral supplements are often needed. The parathyroid function should also be checked and Vitamin D supplements may be prescribed. 

Fluid balance in a child with poor renal function is tricky. The kidneys may need extra fluid to assist with flushing toxins from the body but if the kidney is not able to process a lot of fluid, the fluid will build up in the cells or sometimes in the space between the cells (interstitial fluid) where it will cause swelling particularly in the feet, ankles and hands. Often the fluid will build up in the lungs which can cause pneumonia and breathing difficulties. So there can be a fine line where enough fluid is given to flush the kidney but not so much that it builds up in the tissues.

In a hospital setting, they will weigh the diapers or use a catheter in the bladder to determine if the amount of fluid intake matches the output of urine to help calculate the correct amount. A dietician can also help to make calculations. 

Later Stages of Renal Failure – Kidneys, Emanuel Syndrome

Later stages of renal failure are treated with a procedure called dialysis which mechanically removes the toxins from the body. There are two main methods: Hemodialysis runs the patient’s blood through a machine via a venous access port and peritoneal dialysis pumps dialysis fluid into the peritoneal cavity (space in your abdomen) and this fluid is run through a machine to remove the waste. Peritoneal dialysis can sometimes be done at home. 

In the final stages of renal failure, some families may be asked to consider a transplant.  Your hospital transplant team will evaluate for eligibility but generally speaking, due to immune deficiencies and/or frequent lung infections, Emanuel Syndrome patients are not great candidates for transplant which requires immunosuppressive drugs for life to prevent organ rejection.  

Read Atle’s story – Atle is living with stage three renal failure but living his best life with his parents in North Carolina. His mom is the president of C22C!

Reference

Carter, M. T., St Pierre, S. A., Zackai, E. H., Emanuel, B. S., & Boycott, K. M. (2009). Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. American Journal of Medical Genetics. Part A, 149A(8), 1712–1721. https://doi.org/10.1002/ajmg.a.32957