Turner Syndrome And Kidney Problems

Introduction

Turner Syndrome (TS) is a genetic condition that predominantly affects females. It arises from the partial or complete absence of one X chromosome, resulting in individuals with TS having only one X chromosome instead of the typical two. It's one of the most common diseases caused by chromosomal abnormalities, affecting roughly 1 in 2500 female births.¹ The opinion of TS has traditionally reckoned on the clinical phenotype in addition to standard chromosomal analysis.²

This disorder has an impact on multiple body systems and can manifest in a variety of physical and developmental traits. Some common characteristics include short stature, a neck with excess skin, and distinct facial features. Furthermore, TS can have implications for the cardiovascular system, reproductive organs, and skeletal development. Timely identification and proper treatment are crucial for maximizing the health outcomes of individuals. 

Individualities with TS are at an increased threat of endocrine judgments, including diabetes, thyroid and parathyroid diseases, celiac complaint, osteoporosis,³ and cardiovascular conditions, including arrhythmia, ischemic heart complaint, hypertension, hyperlipidemia, and stroke.

Kidney abnormalities in turner syndrome

TS can have an impact on different aspects of health, and one particular area of worry is the presence of kidney abnormalities. It has been observed that around one-third of individuals with TS experience structural malformations in their kidneys. The severity of these abnormalities can differ, and they may give rise to specific complications including kidney and urinary tract anomalies. Let's take a look at some commonly observed kidney-related problems in individuals with TS:^4,5 

Horseshoe kidney

The horseshoe kidney is the most commonly reported renal anomaly in individuals with TS, with a prevalence of 20–45%, compared to less than 3% in the general population. This condition results from the fusion of both kidneys, creating a U-shaped structure. Although patients with TS and a horseshoe kidney may not show symptoms in childhood, they could develop common problems like:

• Urinary Tract Infections (UTIs) can manifest more frequently as a result of the modified anatomy of the kidneys
• The fused kidneys may have an increased susceptibility to the development of kidney stones
• Hydronephrosis, characterized by the swelling of the kidney caused by urine backup, can be observed

Duplex collecting system

The collecting system of a normal kidney consists of the renal pelvis and the ureter, which carries urine from the kidney to the bladder. In a duplex collecting system, there is a partial fusion of the upper and lower pole moieties of the kidney, resulting in different types of duplication within the collecting system. The extent of duplication can differ. This anomaly leads to the presence of two ureters in one kidney, which can result in urine reflux, recurrent UTIs, and possible kidney harm.

Crossed renal ectopia 

Crossed renal ectopia is characterized by the abnormal positioning of a kidney on the opposite side of the retroperitoneal space in comparison to its usual location. Typically, the left kidney is more frequently found ectopically situated on the right side. The majority of instances (over 85%) involve the crossed kidney merging with the normally situated kidney, leading to the condition known as crossed fused renal ectopia.

Pelvic kidney 

During pregnancy, the condition known as pelvic kidney occurs when one or both kidneys fail to migrate to their appropriate location. Initially, as the baby develops, the kidneys are situated in the pelvis. However, as time progresses, the kidneys ascend to their correct position behind the rib cage. Pelvic kidneys usually affect only one kidney, known as unilateral, although there are rare instances where both kidneys are affected, referred to as bilateral.

Renal malformations research was assessed in 141 individuals diagnosed with TS, revealing abnormalities in 47 patients (33%). One of them had a pelvic kidney.

Ureteropelvic junction obstruction 

Ureteropelvic junction obstruction is a medical condition characterized by a blockage at the point where the ureter connects to the kidney. This blockage leads to a reduction in urine flow through the ureter and an elevation in fluid pressure within the kidney. The heightened pressure within the kidney can eventually lead to a decline in kidney function. The obstruction may either be present at birth (congenital) or develop gradually due to factors such as trauma or changes in body structure as one ages.

Diagnosis

Ultrasonography is a diagnostic imaging technique that allows visualization of internal organs, such as the kidneys and is essential for early detection of abnormalities. DMSA Test involves the use of a short-lived radioisotope to evaluate kidney function. After the baby is delivered, examinations to assess urine production and drainage efficiency involve various tests:

• Blood and urine samples, such as blood urea nitrogen (BUN) and creatinine tests, offer insights into the kidneys' filtration of blood
• An intravenous pyelogram (IVP) involves injecting a dye into the bloodstream, which is then tracked using X-ray imaging as it passes through the kidney, renal pelvis, and ureter
• A nuclear renal scan employs a radioactive substance instead of a dye, which can be detected using a specialized camera. This scan reveals kidney functionality and identifies any potential blockages

Ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI) scans can detect kidney obstructions and provide a detailed view of the kidneys, ureters, and bladder structure.

Treatments options

Antibiotics

As we all know the most common problem in the horseshoe kidney is UTIs, therefore, to manage it we need to use antibiotics. The common oral antibiotics used to treat uncomplicated UTIs are:

• Nitrofurantoin: it targets bacteria in the urinary tract, preventing their growth, it’s essential to take this medication with food to enhance absorption
• Fosfomycin:  it disrupts bacterial cell wall synthesis, It’s available as a single-dose powder that you mix with water
• Sulfamethoxazole-Trimethoprim: this antibiotic inhibits bacterial growth

Patients suffering from complicated or recurrent cystitis may require prophylactic antibiotics but they are not routinely recommended for acute simple cystitis.⁶

Surgical realignment (pyeloplasty)

The surgical procedure that saves the kidney from obstruction, which constricts urine flow to the bladder by removing it and thus restoring a smooth flow of urine so as not to back up into your kidney is called pyeloplasty.

Pyeloplasty can be performed in three different ways:

• Laparoscopically: Small cuts in the skin
• Endoscopic: Through your urethra (peeing tube)
• Open surgery: A larger cut near the kidney

Special care

The provision of individual care for TS patients ensures that they are given specific attention to result in improved renal outcomes. As TS is not a single-size condition. So, special teams know the complexities of TS and provide specialized care. Consult centres with experience in handling TS-associated kidney diseases. These professionals understand the intricacies of how TS affects the kidneys just as TS patients have different requirements. Specialized teams assess things like age, intensity and general health.

Summary

Turner Syndrome (TS) is a genetic condition affecting females, caused by the absence of one X chromosome, impacting multiple body systems, including the kidneys. Approximately one-third of individuals with TS experience kidney abnormalities, such as horseshoe kidney, duplex collecting system, crossed renal ectopia, pelvic kidney, and ureteropelvic junction obstruction, which can lead to complications like UTIs, kidney stones, and reduced kidney function. Diagnosis involves imaging techniques like ultrasounds, CT scans, and specialized tests to assess kidney structure and function. Treatment includes antibiotics for infections, surgical procedures like pyeloplasty to address obstructions, and individualized care by specialized teams to optimize outcomes based on severity and patient health. Early detection and management are crucial for minimizing complications and improving quality of life.

FAQs

Can kidney problems be prevented in TS?

Early detection and proactive management can play a crucial role in preventing or minimizing kidney issues linked to Turner Syndrome (TS), even though TS itself cannot be prevented.

What if my child has a horseshoe kidney?

It is crucial to have routine examinations. Moreover, In case of issues, treatment choices consist of:

• Antibiotics for urinary tract infections.
• Surgical correction (pyeloplasty) for incorrectly positioned kidneys.

Is crossed ectopia serious?

Typically, crossed ectopia does not pose a significant threat. Nevertheless, it is crucial to remain vigilant for any signs or potential complications. On rare occasions, it may lead to urinary tract infections (UTIs), and urinary obstructions: Although uncommon, they are still possible. Therefore, regularly scheduled check-ups to evaluate kidney functionality.

Can kidney abnormalities worsen over time?

Numerous order issues associated with TS remain stable over time.

Regular monitoring helps catch any changes beforehand. Still, the threat factors are high blood pressure or diabetes can worsen order health. Life choices (e.g., diet, hydration) play a part.

Thus, regular check-ups are essential.