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What is Which of the following is not included in definition of nephrotic syndrome: (PGI Dec 2008) and explain in detail?
Ans: A Nephrotic Syndrome (NS) - quoting exact lines from textbook"The characteristic features of nephrotic syndrome are heavy proteinuria (>3.5 g/24hr in adults or 40 mg/m2/hr in children), hypoalbuminemia (<2.5 g/dl), edema & hyperlipidemia '"- Nelson 18th/2190"NephroticSyndrome classically presents with heavy proteinuria, minimal hematuria, hypoalbuminemia, hyperchloesterolemia, edema & hypertension"- H17th/1790"The manifestations of the NS Enclude-massive proteinuria, hypoalbuminemia, generalised edema (anasarca) , hyperlipidemia & lipiduria - Robbins 7th/978"NS is characterized by massive proteinuria, hypoalbuminemia & edema. Hyperlipidemia is usually associated; hematuria, hypertension & impaired renal function are occasionally seen"- O.P. Ghai 6th/450So, from above discussion, it is clear that defining criteria for NS are - heavy proteinuria, hypoalbuminemia, anasarca & hyperlipidemia.Nephritic Syndrome- Robbins 7th/967Manifestations of nephritic syndrome are - hematuria , azotemia, variable proteinuria'1, oliguria , edema & hypertension .Also know (Robbins)ous glomerulopathy is the most common cause of the NS in adultsMinimal change disease (also k/a nil lesion or lipoid nephrosis) is the most frequent cause of NS in children.NPHS 1 gene maps to chromosome 19ql3 & encodes the protein nephrin. Mutation of this gene give rise to congenital nephrotic syndrome of the finnish type .NPHS 2 gene , maps to chromosome lq25-31 & encodes the protein product podocin. Mutation of this gene results in a syndrome of steriod resistant? NS of childhood onset.Adult polycystic kidney disease (ADPKD) is caused by mutation in genes located on chromosome 16pl3.3 (PKD If &4q21 {PKD Ij encodespolycystinl&PKD 2 encodes polycystin 2.Autosomal Recessive polycystic kidney Diseases (ARPKD) Q is caused by mutation in PKHD 1 gene# which encodes fibrocystin protein. It is located on 6p 21-23 chromosome.NPH 1 gene, which encodes nephrocystin, is responsible for jevenile form ofnephronophthisis.