Spondyloepiphyseal dysplasia nephrotic syndrome
Overview
Spondyloepiphyseal dysplasia - nephrotic syndrome: A very rare syndrome characterized by skeletal and immunity abnormalities. The immune defect leads to progressive kidney dysfunction which can ultimately cause death during the first decade.
Symptoms
* Freckles * Progressive kidney dysfunction * Kidney failure * Lymphopenia * Skin pigmentation changes * Increased blood pressure * High urine protein level * Broad nose bridge * Depressed nose bridge * Bulbous nose tip * Reduced blood platelets * Small teeth * Retarded growth * Myopia * Recurring infection * Strokes * Malabsorption * Vomiting * Diarrhea * Fatty stool * Cafe-au-lait spot * Short stature * Short neck * Lordosis * Dislocated hip * Anemia
Diagnosis
Home medical testing related to Spondyloepiphyseal dysplasia - nephrotic syndrome: * Bladder & Urinary Health: Home Testing: o Home Bladder Tests o Home Urinary Tract Infection (UTI) Tests o Home Cystitis Tests o Home Kidney Tests o Home Urine Protein Tests (Kidney Function) o Home Prostate Cancer Tests * Kidney Health: Home Testing: o Home Microalbumin Tests (Kidney) o Home Urine Protein Tests (Kidney) o Home Urinary Tract Infection (UTI) Tests
Prognosis
Prognosis of Spondyloepiphyseal dysplasia - nephrotic syndrome: death usually by 8 years of age
Treatment
* Urinary & Bladder Specialists (Urology): o Urology o Urological Surgery * Kidney Health Specialists (Nephrology): o Nephrology (Kidney Health) o Pediatric Nephrology (Child Kidney Health) o Urology (Urinary/Bladder)