Kidney and Urinary Tract Abnormalities: How Does it Relate to Turner Syndrome?

Approximately one third of patients with Turner Syndrome have a structural malformation of the renal system that affect the kidneys or urinary tract.  If you or a loved one have been diagnosed with TS, it’s important to have an Ultrasonography and a DMSA test performed as soon as possible in order to ensure that no deformities exist. If there are any malformations, the appropriate therapy can be initiated in order to avoid further complications.

What is Ultrasonography and DMSA?

An Ultrasonography is an ultrasound that can be used to create imaging for internal organs within a patient. In this case, the kidneys will be visualized. DMSA is a test that requires the use of dimercapto succinic acid, a short-lived radioisotope. With the use of a special camera, the small amount of radiation emitted from the acid allows doctors to visualize the kidneys, and see how they’re functioning.

For more information about DMSA and renal ultrasonographies, visit the links below:

http://www.chp.edu/our-services/radiology/patient-procedures/dmsa-renal-scan

https://kidshealth.org/en/parents/renal-ultrasound.html

What Types of Problems Can a TS Patient Experience?

Of these malformations, there exists a variety of kidney-based anatomical defects, including duplex collecting systems, crossed ectopia, and most commonly, horseshoe kidney:

Duplex Collecting Systems: Condition in which a kidney has two ureters. Causes a back-flow of urine that can result in frequent UTIs and potential damage the kidneys.

Crossed ectopia: condition in which one of the kidneys crosses to the opposite end of the abdomen, and both kidneys lie on the same flank, where they can potentially be fused together. Although this condition usually has a lack of symptoms, it can result in UTIs or urinary obstructions. Patients with crossed ectopia can also experience flank pain, hematuria, or dysuria.

Horseshoe Kidney: Most common renal abnormality found in patients with TS. Occurs during development of the fetus when the kidneys fuse together and create a horseshoe shape. Although the condition can potentially have no symptoms, the most common problems faced by a child with renal fusion include UTIs, kidney stones, and Hydronephrosis (kidney swelling).

What Treatment Options Are Available?

The severity of the disorder can vary depending on the patient and their age group. Treatment options can range from antibiotics, to surgical realignment. In the event that the kidneys are fused, they cannot be separated. If the malformation is identified before they fuse, and there is an obstruction to the kidneys, the patient can undergo pyeloplasty to reposition the kidneys into their original state. You can find a number of specialized centers on our website that can lead you in the right direction for proper care in managing kidney-related disorders.
For more information, click here: https://turnersyndromefoundation.org/turner-syndrome-across-the-lifespan/specialized-centers/

For more information about the surgical procedure for pyeloplasty, click here: https://www.ucsfbenioffchildrens.org/education/pyeloplasty/#1

White Pages (Digestive):

Research done on patients with Turner Syndrome with the presence of renal malformation:

http://pediatrics.aappublications.org/content/82/6/852

https://www.endocrine-abstracts.org/ea/0039/ea0039oc6.4