Phenotype #0000223178

Individual ID	00295614
Associated disease	NPS
Inheritance	Isolated (sporadic)
Diagnosis/Initial	nail-patella syndrome
Age/Examination	14y (14 years)
Diagnosis/Definite	NPS
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	proteinuria detected by urinary screening program school children; hypoplastic nails, limited extension elbows; radiologic examination absent patella and iliac horns; iris nodules indicated in angulus iridocornealis by ophthalmologist; urine severe proteinuria (urine protein 1.5–2.5 g/d), no hematuria; serum total protein of 5.6 g/dL, albumin 3.3 g/dL, blood urea nitrogen 14 mg/dL, creatinine 0.53 mg/dL; creatinine clearance 129 mL/min; renal biopsy minimal glomerular change detected with light microscopy, electron microscopy NPS specific histologic findings irregular thickening glomerular basement membrane contained patchy electron-lucent areas (moth-eaten appearance), fibers with striated collagen periodicity
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-03-19 14:43:40 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD