Presentation
CASE PRESENTATION: A 24-year-old woman presented to our hospital with knee pain. She had poorly developed nails, hypoplastic patellas, dislocation of the elbows, and iliac horns in the pelvis. [ncbi.nlm.nih.gov]
Entire Body System
-
Cushingoid
Cushingoid features and hypertrichosis were the most common adverse effect seen. [ncbi.nlm.nih.gov]
-
Proportionate Short Stature
In prepuberty the siblings had proportionate short stature but developed disproportion only during adolescence. Molecular genetic analysis revealed compound heterozygosity for a known and a new mutation in the SMARCAL1 gene. [ncbi.nlm.nih.gov]
-
Developmental Delay
RESULTS: The patients (both males, 5 and 10 years old) had varying severity of developmental delay and other neurologic disorders. The renal involvement included hydronephrosis, ureterocele, renal dysplasia, and mesangioproliferative SRNS. [ncbi.nlm.nih.gov]
Musculoskeletal
-
Knee Pain
CASE PRESENTATION: A 24-year-old woman presented to our hospital with knee pain. She had poorly developed nails, hypoplastic patellas, dislocation of the elbows, and iliac horns in the pelvis. [ncbi.nlm.nih.gov]
Ears
-
Hearing Impairment
Of the children in the FRNS/SDNS category, three (15 %) had mild sensorineural hearing impairment. These children had a low serum calcium level (P CONCLUSIONS: Children with FRNS/SDNS and SRNS are at risk of sensorineural hearing impairment. [ncbi.nlm.nih.gov]
Workup
This analysis should be considered part of the routine genetic workup of diseases such as childhood steroid-resistant nephrotic syndrome, where the chance of genetic mutation is high but requires sequencing of multiple genes. [ncbi.nlm.nih.gov]
Treatment
Treatment for steroid-resistant nephrotic syndrome (SRNS) is challenging and children who suffer from SRNS require aggressive treatment to achieve remission. [ncbi.nlm.nih.gov]
Prognosis
BACKGROUND AND OBJECTIVES: Treatment of congenital nephrotic syndrome (CNS) and steroid-resistant nephrotic syndrome (SRNS) is demanding, and renal prognosis is poor. [ncbi.nlm.nih.gov]
Etiology
BACKGROUND/PURPOSE: Nephrotic syndrome is the commonest etiology of proteinuria in children. [ncbi.nlm.nih.gov]
Epidemiology
Regulation (CRG), Barcelona, Catalonia, Spain [2] Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain [3] Hospital del Mar Medical Research Institute (IMIM), Barcelona, Catalonia, Spain [4] CIBER in Epidemiology [ncbi.nlm.nih.gov]
Pathophysiology
[…] significantly lower in SRNS in comparison to SSNS patients and controls (p CONCLUSIONS: Patients with initial SRNS showed decreased GR expression in peripheral blood mononuclear cells (PBMC) before starting therapy, and this low expression may be one of the pathophysiological [ncbi.nlm.nih.gov]
Prevention
If this mutation is a hot spot of mutation in the Turkish population, screening this novel mutation in Turkish children with SRNS may be of great clinical use to prevent unnecessary treatment modalities, provide accurate genetic counselling and predict [ncbi.nlm.nih.gov]