Acrorenal syndrome is a group of disorders associated with malformations of the kidneys and limbs. Acrorenal syndrome exists in affected individuals from birth and is characterized by an autosomal recessive mode of inheritance. Acrorenal syndrome is relatively rare.
What is acrorenal syndrome?
Acrorenal syndrome is a hereditary condition that results in malformations of the limbs and kidneys. Acrorenal syndrome represents a congenital disease that occurs with extremely low frequency in the population. Currently, only about 20 people are known to have the acrorenal syndrome. However, in addition to being a rare hereditary disease, Akrorenal Syndrome is also the collective term for congenital anomalies of the limbs and kidneys that are far more common. The estimated prevalence of such defects is currently about 1:20,000, and statistical studies of patients show that in over 90 percent of cases, abnormalities of the extremities are also associated with abnormalities of the urinary tract and other internal organs. The first description of the acrorenal syndrome was made in 1969 by the two physicians Opitz and Dieker. A connection between malformations of the limbs and defects of the kidney seems to be comparatively frequent. The corresponding disorders are already present at birth. Sometimes further malformations appear on the body of the newborn babies. The actual acrorenal syndrome occurs with a prevalence of about 1:1,000,000. In this case, physicians assume an autosomal recessive mode of inheritance.
Causes
Acrorenal syndrome is a hereditary disorder that manifests itself in malformations of the limbs and kidneys. In this case, patients have certain genetic mutations that lead to the manifestation of the typical symptoms of acrorenal syndrome. The genetic mutations causative for the pathogenesis take place on the gene locus 15q13-q14. As a result of these genetic defects, the extremities and kidneys form defectively, so that the defects are already present at the birth of the patients.
Symptoms, complaints, and signs
In terms of the symptoms of the disease, a distinction must be made between the acrorenal syndrome as a collective term for various malformations and the acrorenal syndrome proper. In the former, patients suffer from malformations of the kidneys and limbs as well as other disorders. For example, affected individuals have split hands or feet, metatarsalia, and metacarpalia. Sometimes oligodactyly, polydactyly, ectrodactyly and brachydactyly are present. Bony connections between phalanges, malformations of the ureter, and renal agenesis are also possible. In addition, some patients have bilateral hypoplasia of the kidneys, obstruction of the bladder neck, double kidneys, or malformations of the urinary bladder triangle. In addition, some individuals present with complaints of hypertelorism, coloboma, physical growth disturbances, and hypoplasia of the helix. In addition, psychomotor retardation, clinodactyly, and aortic isthmic stenosis are sometimes present. Also, symptoms such as coxa valga, hypoplasia of the dental enamel, and hypospadias may be evident. The acrorenal syndrome itself usually manifests as hypoplasia or agenesis of the kidney, ectrodactyly, and hypoplasia of the tibia, ulna, and radius. In rare cases, cystic kidneys are present. Basically, most patients with the acrorenal syndrome die shortly after birth due to deficient renal function. In addition, a large proportion of affected infants are stillborn.
Diagnosis and course
Numerous malformations that occur as part of the acrorenal syndrome are already apparent when the infants are born. Therefore, a diagnosis is usually made immediately after delivery. Even though many children with the acrorenal syndrome are stillborn, a diagnosis of the disease is necessary. Various medical specialists work together in this process, such as orthopedists and specialists in internal medicine. When the newborn patient is examined, the guardians are usually present. The typical combination of physical malformations points to the acrorenal syndrome. To confirm the diagnosis, the physician performs an X-ray examination.Numerous anatomical anomalies, for example on the limbs, can be detected. In modern times, prenatal diagnosis of the acrorenal syndrome is also possible. For this purpose, the attending physician performs a fine ultrasound in the uterus of the expectant mother. Certain malformations can already be detected in this way.
When should you go to the doctor?
Usually, this syndrome is diagnosed before birth or even directly after birth in various examinations. For this reason, it is usually not necessary for parents to specifically see a doctor, as treatment must be given immediately after birth in any case. Since those affected suffer from malformations of the kidneys, these organs must be particularly monitored or spared. Therefore, if kidney complaints occur, a doctor must be consulted immediately. A mental or motoric restriction of the patient can also indicate the syndrome. In this case, too, an examination and treatment by a physician must take place. A doctor must also be consulted in the event of conspicuous disturbances in physical growth. In most cases, unfortunately, it is not possible to carry out treatment of this syndrome. Those affected can only be given palliative support. Eventually, the child dies. Not infrequently, however, the parents of the children also require treatment by a psychologist. Therefore, if depression or other psychological upsets occur, a psychologist should also be consulted.
Treatment and therapy
It is not possible to treat acrorenal syndrome causally. This is because the condition is congenital and eludes postnatal influence, especially since most patients die after birth at the latest. Symptomatic treatment of the acrorenal syndrome is also difficult. Due to the malformations of the kidneys, most patients with the acrorenal syndrome suffer from pronounced renal insufficiency. In the majority of cases, renal insufficiency is the cause of death. Often, only palliative care of the infants is possible. For families with corresponding gene mutations, genetic counseling is strongly recommended during family planning. Statistical evaluations indicate that acrorenal syndrome is clustered in consanguineous unions.
Prospect and prognosis
In this syndrome, various malformations and deformities usually occur on the patient’s body. These occur directly during the development of the fetus and are not acquired during the course of the disease. In many cases, the parents and relatives of the patient also suffer from the psychological stress triggered by the syndrome. The affected person shows anomalies in the hands and feet, which usually lead to movement restrictions. As a result, the patient’s daily life is restricted and often the affected person is dependent on the help of other people in everyday life. Furthermore, the kidneys are also affected by malformations, resulting in disorders and pain. In the worst case, kidney failure occurs. The growth of the body is also restricted by the disease. As a rule, no direct and causal treatment of the syndrome is also possible, so that only the pain of the child can be relieved.
Prevention
Prevention of the genetic causes of the acrorenal syndrome is not possible. However, by means of prenatal methods of examination, acrorenal syndrome is usually detectable in embryos in the womb. For this purpose, the physician uses a fine ultrasound procedure, focusing on the extremities and kidneys.
What you can do yourself
If the child suffers from acrorenal syndrome, it means a great burden for the parents. The child is usually unable to eat or go to the toilet independently. In addition, mental disabilities, growth disorders and various malformations can occur. The complex symptom picture usually means great uncertainty for the relatives, because often further symptoms develop in the course of life, which increasingly restrict the child. In order to reduce the physical and emotional burden, a nurse should be called in at an early stage who can care for the child around the clock. Supportive psychological care is also available for the relatives.In addition to these general measures, which improve the quality of life for child and parents in the long term, various organizational tasks must be completed. These include enrollment in special kindergartens and schools, household modifications and the purchase of the necessary aids (crutches, wheelchair, etc.). The physician can support the parents in these steps and provide tips on how to manage the various tasks and enable the child to live a symptom-free life despite the disease.
