Treatment of Rare Genetic Kidney Disease at the Children’s Hospital at Montefiore Einstein (CHAM)
In collaboration with the Albert Einstein College of Medicine Institute for Clinical Research and the Genomics Center, the Division’s rare disease experts have contributed significant scientific expertise for numerous rare kidney disorders including nephropathic cystinosis, steroid resistant childhood nephrotic syndrome, congenital tubular disorders and growth delay, cystic kidney diseases, prenatal risk factors for prematurity and kidney disease, and kidney transplant medicine. Finally, it serves as a major referral center for numerous funded clinical trials in children and adolescents with rare kidney disorders.
Our team has extensive experience in the treatment of rare and genetic kidney diseases, including:
- Alport syndrome
- Atypical hemolytic uremic syndrome
- C1q nephropathy
- C3 glomerulopathy
- Ciliopathies (including nephronophthisis, Bardet-Biedl syndrome)
- Congenital tubulopathies (e.g. Bartters and Gitelman syndromes)
- Cystinuria and other causes of kidney stones
- IgA Nephropathy
- Medullary cystic kidney disease
- Monogenic hypertension
- Nephropathic cystinosis
- Nephrotic syndrome, including congenital nephrotic syndrome, minimal change disease/focal segmental glomerulosclerosis (FSGS), membranous nephropathy, apolipoprotein L1 (APOL1) and other genetic causes of nephrotic syndrome/proteinuria
- Nephrogenic diabetes insipidus
- Polycystic kidney diseases
- Primary hyperoxaluria/oxalosis
- Renal cysts and diabetes syndrome
- Renal tubular acidosis
- Williams syndrome