Arthrogryposis (Renal Dysfunction Cholestasis Syndrome)

Definition

Definition of Arthrogryposis (Renal Dysfunction Cholestasis Syndrome)
Arthrogryposis (Renal Dysfunction Cholestasis Syndrome) is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. The prevalence is unknown but less than 100 patients have been reported in the literature so far. The phenotype is variable, even within the same family and cases may go undiagnosed as not all the patients present with the three cardinal features. Renal tubular dysfunction ranges from isolated renal tubular acidosis to complete Fanconi syndrome (polyuria, aminoaciduria, glycosuria, phosphaturia and bicarbonate wasting).

Symptoms

Symptoms of Arthrogryposis (Renal Dysfunction Cholestasis Syndrome)
The sign and symptoms of Arthrogryposis (Renal Dysfunction Cholestasis Syndrome) listed below:

1. Proximally set thumb
2. Scrotal abnormalities
3. Clotting disorders
4. Icterus
5. Restricted joint mobility
6. Talipes varus
7. Talipes valgus
8. Amyotrophy
9. Muscle agenesis
10. Kidney dysfunction
11. Jaundice
12. Nephrocalcinosis

Causes

Causes of Arthrogryposis (Renal Dysfunction Cholestasis Syndrome)
The causes of Arthrogryposis (Renal Dysfunction Cholestasis Syndrome) listed below:

1. Liver conditions
2. Abdominal conditions
3. Biliary conditions
4. Digestive conditions
5. Joint conditions
6. Musculoskeletal conditions
7. Limb conditions
8. Kidney conditions

Diagnosis

Diagnosis of Arthrogryposis (Renal Dysfunction Cholestasis Syndrome)
These home medical tests may be relevant to Arthrogryposis (Renal Dysfunction Cholestasis Syndrome):

High Cholesterol: Home Testing:

• Home Cholesterol Tests
• Home Triglycerides Tests
• Home Blood Pressure Test Devices

High Blood Pressure: Home Testing

• Home Blood Pressure Hypertension Tests

Treatment

Treatment of Arthrogryposis (Renal Dysfunction Cholestasis Syndrome)
There is no specific treatment for the disease. Most patients die within the first year of life despite supportive care for metabolic acidosis and cholestasis and those surviving longer show cirrhosis and severe developmental delay.

Prognosis

Prognosis of Arthrogryposis (Renal Dysfunction Cholestasis Syndrome)
Consult with your doctor.

Prevention

Prevention of Arthrogryposis (Renal Dysfunction Cholestasis Syndrome)
Consult with your doctor.