Which are the symptoms of Cystinuria?

Symptoms of Cystinuria

Cystinuria is a rare genetic disorder that affects the kidneys and leads to the formation of cystine stones in the urinary tract. These stones are composed of an amino acid called cystine, which is normally filtered by the kidneys and excreted in the urine. However, in individuals with cystinuria, the kidneys are unable to properly reabsorb cystine, resulting in its accumulation and subsequent formation of stones.

1. Kidney stones: The hallmark symptom of cystinuria is the recurrent formation of kidney stones. These stones can vary in size and may range from tiny crystals to larger stones that can cause severe pain. The stones can obstruct the urinary tract, leading to symptoms such as intense pain in the back or side, blood in the urine, and frequent urination.

2. Urinary tract infections: People with cystinuria are at an increased risk of developing urinary tract infections (UTIs). UTIs can cause symptoms such as a burning sensation during urination, frequent urge to urinate, cloudy or foul-smelling urine, and pelvic pain.

3. Hematuria: Hematuria, or the presence of blood in the urine, is another common symptom of cystinuria. The passage of kidney stones can cause damage to the urinary tract, leading to bleeding and the appearance of blood in the urine.

4. Flank pain: Flank pain refers to a dull or sharp discomfort in the area between the ribs and hips. It is often associated with the presence of kidney stones and can be quite severe in individuals with cystinuria.

5. Nausea and vomiting: Some individuals with cystinuria may experience episodes of nausea and vomiting, particularly when the kidney stones cause partial or complete obstruction of the urinary tract.

6. Frequent urinary tract obstruction: Due to the recurrent formation of cystine stones, individuals with cystinuria may experience frequent urinary tract obstructions. This can lead to a cycle of stone formation, obstruction, and subsequent release, causing ongoing symptoms and complications.

7. Growth retardation (in children): In rare cases, cystinuria can affect the growth and development of children. The excessive excretion of cystine in the urine can lead to poor nutrient absorption and growth retardation if not properly managed.

8. Family history: Cystinuria is a genetic disorder, so a family history of the condition is often present. If one or both parents have cystinuria, there is an increased likelihood of their children inheriting the disorder.

It is important to note that the severity and frequency of symptoms can vary among individuals with cystinuria. Some may experience mild symptoms and infrequent stone formation, while others may have more severe symptoms and frequent stone episodes.