Musculoskeletal Key

Panproximal Tubular Dysfunction (Fanconi Syndrome) Eileen D. Brewer Fanconi syndrome (FS) is the result of generalized transport dysfunction of the proximal renal tubule. It is characterized classically by excessive urinary…

Nail-Patella Syndrome (Hereditary Onychoosteodysplasia) David R. Powell The cardinal features of nail-patella syndrome (NPS) are dysplastic nails and hypoplastic patellae; some patients have iliac horns, knee and elbow abnormalities, cataracts,…

Primary Hyperoxaluria (Oxalosis) David R. Powell EPIDEMIOLOGY Primary hyperoxaluria (PH) encompasses two rare autosomal recessive disorders associated with excess production and urinary excretion of oxalic acid; often the result is…

Sickle Cell Nephropathy Ewa Elenberg Children with sickle cell anemia, and often those with sickle cell trait, may present with a wide spectrum of significant urinary tract disorders, including hyposthenuria,…

Nephropathy of Diabetes Mellitus L. Leighton Hill Diabetes mellitus is the leading cause of end-stage renal disease (ESRD) worldwide. In the United States, diabetic nephropathy accounts for approximately 40% of…

Familial Juvenile Nephronophthisis Ewa Elenberg Familial juvenile nephronophthisis (NPH), also termed nephronophthisis type 1 (NPH1), is an autosomal recessive, progressive tubulointerstitial kidney disease. It is characterized clinically by polyuria, polydipsia,…

Benign Familial Hematuria Ewa Elenberg Benign familial hematuria (BFH) also is known as benign persistent hematuria, benign essential hematuria, or thin basement membrane disease (TBMD). The term benign implies benign…

Glomerulonephritis and Nephrotic Syndrome Eileen D. Brewer OVERVIEW OF GLOMERULONEPHRITIS Glomerulonephritis (GN) is the general name given to a heterogenous group of diseases that result from immunologic injury to glomeruli…