An examination reveals massive fluid retention and generalized swelling. Abnormal sounds are heard when listening to the heart and lungs with a stethoscope. Blood pressure may be high. The patient may have signs of malnutrition. A urinalysis reveals large amounts of protein and sometimes small amounts of blood in the urine. Kidney function may be normal in the first weeks or months of life. Laboratory studies show low serum levels of protein (albumin) and immunoglobulins, and elevated levels of triglycerides and cholesterol. Blood work may also show thyroid and vitamin D deficiency. Kidneys on ultrasound imaging may appear enlarged and brighter (hyperechoic). The disorder can be screened during pregnancy by finding elevated levels of alpha-fetoprotein on a routine sampling of amniotic fluid. Indication for kidney biopsy remains unclear as histologic findings do no reveal the cause of<unk> , but findings may help in developing treatment strategies. Findings on light microscopy can vary from minimal change nephropathy to focal segmental glomerulosclerosis or diffuse mesanigial sclerosis. Electron microscopy shows podocyte disruption (loss of foot processes or slit diaphragm). Genetic analysis and infectious workup are needed to determine the precise cause of<unk> . Understanding the underlying cause can assist in disease management, prognosis, and genetic counseling.
Congenital nephrotic syndrome
Cystic kidney disease
Medullary cystic kidney disease
Glomerulocystic kidney disease
Juvenile nephronophthisis
Malarial nephropathy
Polycystic kidney disease
Transplant glomerulopathy