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…
Progressive Hereditary Nephritis Ewa Elenberg Alport syndrome or hereditary nephritis is characterized by hematuria, proteinuria, progressive renal failure, sensorineural hearing loss, and ocular lesions. Affected male patients typically have severe…
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…
Renal Malformations Laura S. Finn Developmental abnormalities of the kidney produce significant rates of morbidity and mortality and are the most common cause of renal failure in children. Malformations result…
End-Stage Renal Disease Edward C. Kohaut DIALYSIS Deciding when to initiate dialytic therapy in the child with chronic renal failure (CRF) often is difficult. No given level of serum creatinine…
