Nephrogenic Diabetes Insipidus Arundhati S. Kale L. Leighton Hill Nephrogenic diabetes insipidus (NDI) is a hereditary or acquired disorder characterized by renal tubular resistance to the antidiuretic hormone arginine vasopressin…
Disorders of Renal Phosphate Transport Myra L. Chiang Phosphorus plays a critical role in skeletal development, mineralization, and cellular functions. The kidney regulates phosphate homeostasis by tubular reabsorption of filtered…
Disorders of Renal Glucose Transport L. Leighton Hill Primary renal glucosuria is a selective defect of proximal tubular glucose transport in which glucose is excreted in the urine at normal…
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…
Renal Tubular Acidosis Myra L. Chiang L. Leighton Hill Renal tubular acidosis (RTA), a biochemical syndrome characterized by a persistent hyperchloremic (non–anion gap) metabolic acidosis, is caused by abnormalities in…
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,…
