Topic; Phylogenetic Disorders of Human Excretory System Guided By : Prof. Anna Zhukova
CONTENTS INTRODUCTION Normal structure and Function of excretory System. Disorders Example and images
INTRODUCTION The excretory system is a passive biological system that removes excess, unnecessary materials from the body fluids of an organism, so as to help maintain internal chemical homeostasis and prevent damage to the body. The dual function of excretory systems is the elimination of the waste products of metabolism and to drain the body of used up and broken down components in a liquid and gaseous state. In humans and other amniotes ( mammals, birds and reptiles ) most of these substances leave the body as urine and to some degree exhalation, mammals also expel them through sweating. It includes Urinary system Respiratory system Integumentary system Billary system Gastrointestinal tract
Normal structure and Function of excretory System Urinary system The kidneys are large, bean-shaped organs which are present on each side of the vertebral column in the abdominal cavity. each kidney is supplied with blood from the renal artery. The kidneys remove from the blood the nitrogenous wastes such as urea, as well as salts and excess water, and excrete them in the form of urine. This is done with the help of millions of nephrons present in the kidney. The filtrated blood is carried away from the kidneys by the renal vein (or kidney vein). The urine from the kidney is collected by the ureter (or excretory tubes), one from each kidney, and is passed to the urinary bladder. The urinary bladder collects and stores the urine until urination. The urine collected in the bladder is passed into the external environment from the body through an opening called the urethra. Respiratory system One of the main functions of the lungs is to diffuse gaseous wastes, such as carbon dioxide, from the bloodstream as a normal part of respiration. Gastrointestinal tract The large intestine's main function is to transport food particles through the body and expel the indigestible parts at the other end, but it also collects waste from throughout the body. The typical brown colour of mammal waste is due to bilirubin, a breakdown product of normal heme catabolism.  The lower part of the large intestine also extracts any remaining usable water and then removes solid waste. At about 10 feet long in humans, it transports the wastes through the tubes to be excreted.
Biliary system The liver detoxifies and breaks down chemicals, poisons and other toxins that enter the body. For example, the liver transforms ammonia (which is poisonous) into urea in fish, amphibians and mammals, and into uric acid in birds and reptiles. Urea is filtered by the kidney into urine or through the gills in fish and tadpoles. Uric acid is paste-like and expelled as a semi-solid waste (the "white" in bird excrements). The liver also produces bile, and the body uses bile to break down fats into usable fats and unusable waste. Invertebrates lack a liver, but most terrestrial groups, like insects, possesses a number of blind guts that serve the similar functions. Marine invertebrates do not need the ammonia conversion of the liver, as they can usually expel ammonia directly by diffusion through the skin. Integumentary system The integumentary system comprises the skin and its appendages acting to protect the body from various kinds of damage, such as loss of water or damages from outside. The integumentary system includes hair, scales, feathers, hooves, and nails.
Phylogenetic disorders of Excretory System Horseshoe Kidney. Wilms tumor. Polycystic Kidney. Renal Faliure [RF]. Bright disease. Urethritis cystitis
Horseshoe kidney Horseshoe kidney, also known as ren arcuatus (in Latin), renal fusion or super kidney, is a congenital disorder affecting about 1 in 500 people that is more common in men, often asymptomatic, and usually diagnosed incidentally.In this disorder, the patient's kidneys fuse together to form a horseshoe -shape during development in the womb. The fused part is the isthmus of the horseshoe kidney. The abnormal anatomy can affect kidney drainage resulting increased frequency of kidney stones and urinary tract infections as well as increase risk of certain renal cancers.
Signs and symptoms Although often asymptomatic, the most common presenting symptom of patients with a horseshoe kidney is abdominal or flank pain. However, presentation is often non-specific. [ Approximately a third of patients with horseshoe kidneys remain asymptomatic throughout their entire life with over 50% of patients having no medical issues related to their renal fusion when followed for a 25 year period. As a result, it is estimated that approximately 25% of patients with horseshoe kidneys are diagnosed incidentally with ultrasound or CT imaging. [1
Wilms' tumor Wilms' tumor, also known as nephroblastoma, is a cancer of the kidneys that typically occurs in children, rarely in adults.  It is named after Max Wilms, the German surgeon (1867–1918) who first described it.  Approximately 650 cases are diagnosed in the U.S. annually.  The majority of cases occur in children with no associated genetic syndromes; however, a minority of children with Wilms' tumor have a congenital abnormality. [ It is highly responsive to treatment, with about 9/10 children being cured
Typical signs and symptoms of Wilms' tumor include the following: a painless, palpable abdominal mass loss of appetite abdominal pain fever nausea and vomiting blood in the urine (in about 20% of cases) high blood pressure in some cases (especially if synchronous or metachronous bilateral kidney involvement) signs and symptoms
Molecular biology and related conditions Mutations of the WT1 gene which is located on the short arm of chromosome 11 (11p13) are observed in approximately 20% of Wilms' tumors.   At least half of the Wilms' tumors with mutations in WT1 also carry mutations in CTNNB1, the gene encoding the proto-oncogene beta-catenin
Polycystic kidney disease Polycystic kidney disease ( PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney.These cysts may begin to develop in utero, in infancy, in childhood, or in adulthood.  Cysts are non-functioning tubules filled with fluid pumped into them, which range in size from microscopic to enormous, crushing adjacent normal tubules and eventually rendering them non-functional as well. PKD is caused by abnormal genes that produce a specific abnormal protein; this protein has an adverse effect on tubule development. PKD is a general term for two types, each having their own pathology and genetic cause: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD)
Polycystic kidney disease symptoms can include: 1. High blood pressure 2. Back or side pain 3. Headache 4. A feeling of fullness in your abdomen 5. Increased size of your abdomen due to enlarged kidneys 6. Blood in your urine 7. Kidney stones 8. Kidney failure 9. Urinary tract or kidney infections Abnormal genes cause polycystic kidney disease, which means that in most cases, the disease runs in families. Rarely, a genetic mutation occurs on its own (spontaneous), so that neither parent has a copy of the mutated gene.The two main types of polycystic kidney disease, caused by different genetic flaws, are: 1. Autosomal dominant polycystic kidney disease (ADPKD). Signs and symptoms of ADPKD often develop between the ages of 30 and 40. Symptoms Causes
Polycystic kidney disease can be ascertained via a CT scan of abdomen, as well as, an MRI and ultrasound of the same area. A physical exam/test can reveal enlarged liver, heart murmurs and elevated blood pressure Diagnosis There is no FDA-approved treatment. However, recent research indicates that mild to moderate dietary restrictions slow the progression of autosomal dominant polycystic kidney disease in mice. If and when the disease progresses enough in a given case, the nephrologist or other practitioner and the patient will have to decide what form of renal replacement therapy will be used to treat end-stage kidney disease. That will either be some form of dialysis, which can be done at least two different way Treatment
Renal Failure (RF) or Kidney Failure Renal failure is a decrease or cessation of glomerular filtration in humans. In acute renal failure (ARF), both the kidneys abruptly stop working. The main feature of ARF is either oligouria (scanty urine production) which is daily urine output less than 250 ml or anuria (daily urine output less than 50 ml). Causes Low blood volume (e .g., due to hemorrhage), (ii) decrease cardiac output (iii) damaged renal tubules ADVERTISEMENTS: (iv) kidney stones (v) the dyes used to observe blood vessels in angiograms. (vi) non-steroid anti-inflammatory drugs and (vii) some antibiotic drugs
Effects : (a) Oedema, (b) Potassium level rises which can lead to cardiac arrest, (c) No production of enough erythropoietin for adequate RBCs production and causing anaemia, (d) Since kidneys are not able to convert vitamin D to calcitriol, which is needed for proper calcium absorption from the small intestine, (e) Osteomalacia may also occur . Treatment: Haemodialysis.
Bright's disease The Bright's disease were first described in 1827 by the English physician Richard Bright,. Symptoms and signs included: inflammation of serous membranes, hemorrhages, apoplexy, convulsions, blindness and coma.Many of these cases were found to have albumin in their urine (detected by the spoon and candle-heat coagulation), and showed striking morbid changes of the kidneys at autopsy.  The triad of dropsy, albumin in the urine and kidney disease came to be regarded as characteristic of Bright's disease Bright's disease is a kidney diseases that would be described in medicine as acute or chronic nephritis.It was characterized by swelling and the presence of albumin in the urine, and was frequently accompanied by high blood pressure and heart disease
Urethritis Urethritis is inflammation of the urethra. The most common symptom is painful or difficult urination.   It is usually caused by infection with bacteria. The bacterial infection is often sexually transmitted, but not in every instance; it can be idiopathic The disease is classified as either gonococcal urethritis, caused by Neisseria gonorrhoeae, or non-gonococcal urethritis (NGU), most commonly caused by Chlamydia trachomatis. NGU, sometimes called nonspecific urethritis (NSU), has both infectious and noninfectious causes. Urethritis is part of triad of reactive arthritis
Cystitis Cystitis (sis-TIE-tis) is the medical term for inflammation of the bladder. Most of the time, the inflammation is caused by a bacterial infection, and it's called a urinary tract infection (UTI). A bladder infection can be painful and annoying, and it can become a serious health problem if the infection spreads to your kidneys. Less commonly, cystitis may occur as a reaction to certain drugs, radiation therapy or potential irritants, such as feminine hygiene spray, spermicidal jellies or long-term use of a catheter. Cystitis may also occur as a complication of another illness. The usual treatment for bacterial cystitis is antibiotics. Treatment for other types of cystitis depends on the underlying cause