The pediatric department of the Ichilov clinic is currently one of the most progressive in the world. Here, all childhood diseases are treated, including congenital defects, using numerous advanced technologies, including visual diagnostic tools and surgical techniques (including microsurgical operations using robots). The department has its own laboratory with the latest equipment. All services are concentrated under one roof, allowing for prompt diagnosis and treatment.
Treatment at the clinic is provided by world-renowned specialists and doctors. Each department is headed by a top-level expert who has undergone training and licensing courses at prestigious medical centers in Europe and North America.
The clinic cares not only about the medical aspect of patient recovery but also does everything possible to reduce psychological and emotional stress. Hospitalized children have access to playrooms, a cinema, a science museum, and an auditorium. Parents' reviews are filled with words of gratitude towards the doctors and staff who assist in resolving many issues related to their stay at the clinic.
Cystinosis Treatment Methods
Treatment for cystinosis aims to address specific symptoms. Depending on which organs and systems are affected by the disease, nephrologists, ophthalmologists, gastroenterologists, as well as psychologists and other medical professionals are involved in the therapeutic process.
Cystine-Depleting Therapy
Modern medications that deplete cystine are used in the treatment of the disease, which can significantly lower its levels in cells. Drug therapy slows the development and progression of kidney damage and accelerates growth in children. Cystine-depleting therapy helps significantly postpone the need for a kidney transplant (up to 20 years or longer).
Symptomatic Therapy
Fanconi syndrome is treated with a large amount of fluids and electrolytes to prevent excessive loss of water from the body (dehydration). Sodium bicarbonate, sodium citrate, magnesium, and potassium may be used to maintain normal electrolyte balance. Acetylcholinesterase inhibitors (ACE inhibitors) are sometimes used to slow the progression of kidney failure.
Indomethacin is an anti-inflammatory drug that is sometimes used to reduce the loss of water and electrolytes in urine; it may also help improve growth rate.
Phosphates and vitamin D are often prescribed to correct phosphate reabsorption disorders in the blood and prevent rickets. Carnitine may be prescribed to some individuals before transplantation to improve muscle strength.
Additional Measures
Proper nutrition is vital for infants and children to maximize their growth potential. Growth hormone therapy has significantly improved growth in many patients. L-thyroxine is used to treat hypothyroidism, insulin for insulin-dependent diabetes, and testosterone for boys with insufficient testicular function (hypogonadism – underdeveloped secondary sexual characteristics).
Some infants and children with cystinosis (for example, with dysphagia, poor nutrition, and increased risk of aspiration) may require the implantation of a gastrostomy tube. This procedure involves inserting a thin tube into the stomach through a small incision in the abdominal wall, allowing for direct intake of food and/or medication.
Dialysis
Despite early and timely treatment, individuals with infantile and intermediate cystinosis eventually develop kidney failure. Initially, the patient may undergo dialysis. Dialysis is a procedure that filters waste products from the bloodstream and helps maintain necessary levels of essential chemicals such as potassium.
Kidney Transplantation
Individuals with cystinosis will eventually require a kidney transplant. The rate of progression of kidney dysfunction to kidney failure can vary significantly from person to person. People with cystinosis generally respond very well to kidney transplantation, which can cure Fanconi syndrome, as cystine does not accumulate in the donor kidney.
Diagnosis of the Disease
Timely diagnosis of cystinosis is crucial to maximize the preventive and therapeutic benefits of cystine-depleting medications.
On the first day, a consultation with the attending physician is scheduled. The diagnosis of cystinosis is based on the identification of characteristic symptoms (for example, symptoms of Fanconi syndrome), a detailed patient history, thorough clinical assessment, and various specialized tests. The doctor may use a special microscope called a slit lamp to examine the eyes at high magnification, which can reveal cystine crystals in the cornea.
On the second day of diagnosis, tests necessary to confirm the diagnosis and check the patient's overall condition are conducted.
- Blood tests. The diagnosis of cystinosis can be confirmed by measuring the level of cystine in certain white blood cells (“polymorphonuclear leukocytes”).
- Urine analysis. Helps identify excessive loss of nutrients, including minerals, electrolytes, amino acids, carnitine, and water, indicating Fanconi syndrome.
- Molecular genetic testing. Helps identify the characteristic mutation of the CTNS gene that causes the disease.
- Ultrasound of the kidneys and abdominal organs.
- Doppler ultrasound of the renal vessels.
- CT of the abdominal segment, MRI of the abdominal cavity and retroperitoneal space. Conducted to rule out nephrocalcinosis and urinary tract obstruction.
At the final stage of diagnosis, a comprehensive analysis of the obtained results is conducted. For this, the attending physician gathers a consultation consisting of doctors from various specialties. Collectively, specialists choose the most appropriate treatment protocol and determine the overall prognosis.
How Much Does Cystinosis Treatment Cost
Despite the high level of medical care, the cost of treatment at the Ichilov clinic is, on average, 35-50% lower than in medical centers in Western Europe and America. It should also be noted that payment for all procedures and manipulations is made directly at the clinic's cash desk, without any hidden charges.
The full cost of treatment can be determined after examination at the clinic when the entire scope of necessary measures that make up the price becomes clear. A preliminary cost estimate is calculated at the stage of trip preparation after a conversation with a medical consultant.
Advantages of Treatment at Ichilov
- Doctors with unique experience in treating congenital and acquired pathologies characteristic of childhood.
- Equipment that allows for precise analysis of the patient's condition and complex medical procedures.
- Increased comfort for patients, psychological support, and assistance at all stages of treatment.
- Affordable prices with the highest level of medical services.
Schedule a consultation today, our medical consultant will assist you in choosing a doctor and organizing a prompt consultation.