X-linked diffuse leiomyomatosis-Alport syndrome
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
Also known as: Xq22.3 microdeletion syndrome, ATS-DL, Alport syndrome with diffuse leiomyomatosis, DL-ATS, diffuse leiomyomatosis in Alport syndrome, leiomyomatosis, diffuse, with Alport syndrome.
Category: General
Symptoms associated with X-linked diffuse leiomyomatosis-Alport syndrome
The following symptoms have been associated with X-linked diffuse leiomyomatosis-Alport syndrome in medical literature. Not everyone experiences the same symptoms.
Constipation
Infrequent or difficult evacuation of feces....
Dysphagia
Difficulty in swallowing....
Dyspnea
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg sca...
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Hematuria
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic...
Microscopic hematuria
Microscopic hematuria detected by dipstick or microscopic examination of the urine....
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate X-linked diffuse leiomyomatosis-Alport syndrome
Healthcare providers may order these tests when evaluating X-linked diffuse leiomyomatosis-Alport syndrome. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with X-linked diffuse leiomyomatosis-Alport syndrome, which is why a clinical evaluation is important.
Alport syndrome
Alport syndrome is a medical condition that may be associated with various symptoms and signs....
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
X-linked Alport syndrome-diffuse leiomyomatosis
X-linked Alport syndrome-diffuse leiomyomatosis is a medical condition that may be associated with various sym...
developmental delay, impaired speech, and behavioral abnormalities
developmental delay, impaired speech, and behavioral abnormalities is a medical condition that may be associat...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
Frequently Asked Questions
What is X-linked diffuse leiomyomatosis-Alport syndrome?
X-linked diffuse leiomyomatosis-Alport syndrome is a health condition described in medical literature. A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
What are the symptoms of X-linked diffuse leiomyomatosis-Alport syndrome?
X-linked diffuse leiomyomatosis-Alport syndrome is associated with 9 symptoms in the medical literature we index, including Constipation, Dysphagia, Dyspnea, Failure to thrive, Hearing impairment, Hematuria. Symptoms vary widely between individuals.
How is X-linked diffuse leiomyomatosis-Alport syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with X-linked diffuse leiomyomatosis-Alport syndrome include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have X-linked diffuse leiomyomatosis-Alport syndrome, please discuss your symptoms with a qualified healthcare provider.