If the baby in the first month of life scored less than 100 grams, he has too frequent, thin, very oily stools and almost no appetite, then we can assume the presence of a disease such as Schwachmann-Diamond syndrome. In children, the ailment causes precisely these symptoms.
Medical history: causes
In the spring of the distant 1964, scientists Bodian and Sheldon first described the symptoms of this disease, calling it pancreatic hypoplasia. After some time, another scientific tandem decided to study this issue more thoroughly, as a result of which it turned out that a slightly different kind of ailment was taking place. This is how Schwachmann-Diamond syndrome appeared.
This disease affects infants extremely rarely. Statistics show that one out of fifty thousand children gets sick. Nevertheless, the disease exists and is genetic in nature, that is, it is transmitted to the child from both parents in an autosomal recessive manner. The essence of the process is the mutation of a specific section of the 7th chromosome of the gene, denoted by the abbreviation SBDS. This gene contains a specific protein, which is present in scanty amounts in every human organ, but the largest number is found in the pancreas. As a result, when a gene mutation occurs, endocrine dysfunction occurs in this organ, lipase production is disrupted, and, accordingly, this enzyme is deficient. Although the disease has not been fully studied, and the exact function of the mutating gene is unknown, it has been found that, in addition to malfunctions of the pancreas, it also destructively affects the bone marrow.
The bulk of those suffering from this ailment received this defective gene from their parents. But there are also sporadic cases when the appearance of an ailment during embryonic development was influenced by mumps viruses or, for example, Coxsackie.
Schwachman-Diamond Syndrome: Symptoms
This rare disease is characterized by a delay in the intellectual, mental and physical sphere of development. Symptoms can occur both from birth and from six months of age, with the beginning of the introduction of complementary foods.
- The first and most striking sign of the disease is frequent and specific diarrhea. The chair is extremely fatty filling, clay color and fetid odor. Specialists call it steatorrhea.
- Against the background of a constant disorder, the child begins to rapidly lose weight and appetite, which often leads to dystrophy.
- Children with Schwachmann-Diamond syndrome are prone to frequent illnesses, as their immune system is significantly weakened.
- Bone marrow dysfunction leads to serious changes in the blood formula - anemia of varying severity, neutropenia (decreased protective function), thrombocytopenia (violation of blood coagulation and, as a result, a tendency to heavy blood loss) are often observed. Pancytopenia is often observed - a sharp decrease in all blood cells.
- Hormonal disorders lead to stunting and delayed puberty (in later cases).
- The intellect and the neuropsychic sphere suffer.
- Also, in patients with Schwachmann-Diamond syndrome, bone abnormalities, a violation of the mineral component, and frequent causeless fractures are noted.
The course of the disease and its prognosis depend on what form of the disease is taking place. For example, with a mild degree of this syndrome, not all of the above violations and symptoms are present, while the severe form is characterized by a rapid and extremely unfavorable course.
Of course, the disease affects the future lifestyle of both patients and guardians. The child needs constant care, care and attention. Frequent hospitalization in various clinics, the purchase of expensive drugs to maintain the life and health of such children are also needed. In addition, small patients are in dire need of a diet, and a lifelong one.
Diagnosis of the disease
To diagnose a disease, it is necessary to differentiate it from cystic fibrosis, with which the symptom is similar in this ailment. Cystic fibrosis is also a severe genetic disease in the pancreas. To identify an accurate diagnosis, a measurement of the concentration of elastase (enzyme) in the stool and sweat samples is prescribed. If the concentration of sodium chloride in sweat is increased, and the elastase in the analysis is reduced, then the test for cystic fibrosis is positive. Otherwise, the doctor is dealing with a disease called Schwachmann-Diamond syndrome.
Diagnosis of this pathology is not extremely complicated, because usually the symptoms are too pronounced. Therefore, any qualified pediatrician may suspect the presence of this disease. A set of measures aimed at identifying the syndrome includes the following actions:
- The doctor must correctly collect the anamnesis, calmly interviewing parents when the child has characteristic symptoms in the form of a mushy stool, lack of appetite, lack of weight and other signs. By the way, diarrhea in children with Schwachmann-Diamond syndrome can reach 14 times a day.
- The doctor will certainly clarify the anamnesis, relating to family diseases, and also find out how often the child is ill with infectious ailments.
- This is followed by a direct examination of the patient: measuring temperature and pressure, ascertaining the pulse rate, listening to the heart and lungs with a phonendoscope, feeling internal organs.
- Comprehensive clinical blood and stool tests are performed. Usually the latter shows a pronounced steatorrhea. The blood formula is significantly violated, but sugar is usually normal.
- A study of urine is prescribed. In the analysis of urine, protein, red blood cells and white blood cells are elevated.
- After these studies, CT, MRI of the abdominal organs and ultrasound are mandatory. If this syndrome occurs, then the pathology of the pancreas is fully confirmed.
- As a rule, the pediatrician sends the patient for a consultation with a geneticist and a gastroenterologist. You may need an x-ray of the bone tissue and the conclusion of a nephrologist.
- But the most expensive and reliable is DNA analysis.
Therapeutic measures
The treatment of patients with Schwachmann-Diamond syndrome is primarily aimed at maintaining vital functions.
To do this, use replacement therapy - replenishment of the missing enzymes and hormones. High-dose pancreatin preparations are taken for life. Recovery of the blood formula is also necessary. In this case, anemia is easiest to treat. If concomitant infectious diseases occur (due to pronounced immunodeficiency, the child is very often ill), then antibiotic therapy is connected. In pathologies that are characterized by a severe course, radiation and chemotherapy are used, as well as bone marrow transplantation.
Diet
The lifestyle of such patients, in addition to medical procedures, is forever associated with a specific diet. This should be a high-calorie menu based on proteins and instant fats. The diet in this case should contain 150% of calories from the diet of ordinary children at this age. This is especially necessary for patients with a ten percent deficiency of body weight. In addition to products, specialized nutrition is used: therapeutic mixtures based on cow proteins (if allergies are present, then synthesized). Vitamin therapy is required, because due to frequent diarrhea, vital substances are rapidly washed out of the body.
Forecasts
As for the forecasts, it all depends on the adequacy of the treatment and lifestyle of the patient, as well as on the severity of the disease. In difficult cases, children barely live up to 7 years, and with not too severe forms - up to twenty or more.