HEAD OF DEPARTMENT: Germanov V.T. TEACHER: Agovtonnva Elena Alexandria.

Project: Analyses of pedigree tree of a patient with family history of
Crohn¶s disease.



Flat 347. Occupation: Accountant. Goals for Genetic Counselling: 1. Place of work: Privat Bank. To fill in the card of proband¶s phenotype. Age: 25 yrs. To calculate the genetic risk for proband or for family members. . Sex: Female. Lugansk state. Date of hospitalisation: 22nd December 2010. To do a complete careful physical examination of the affected individual and of apparently unaffected individuals in the family. 3. To diagnose the genetic disorder. Shevchenko street. To take correct family history and construct a pedigree. Name: Maria Volosiyenko. Ukraine. Lugansk state. 2. 6. To gather information from hospital records about the affected individual. 5. To prescribe the scheme of genetic examining and interpret the data of laboratory analysis. House 4. 4. to take the data which can identify the genetic origin. Address: T.PASSPORT PART.

Due to screening test for the family. there¶s no history of drug allergies. diffuse arthralgias and significant weight loss. fatigue. . The patient¶s mother during her pregnancy had no diseases and she was never admitted to the hospital and also her delivery was without complications. She said abdominal pain started initially which was accompanied by diarrhea in a smaller volume of feces of higher frequency. malaise. it was revealed that her father¶s cousin is a carrier of the disease and so is her daughter. As the year goes by she also suffered from intermittent fever. The onset occurred at the age of about 25yrs old. loss of appetite. Anamnesis Vitae. Family History.Anamnesis Morbi. She does not have any history of drug abuse. Drug History: In the patient¶s family. Also exploratory gallbladder surgery was done in response to abdominal pain and the pathologist¶s report of tissue submitted from the gallbladder surgery was negative for any pathology. headaches. Her postnatal events were normal. she has been relatively normal. and also she¶s a social drinker. neonatal death or newborns with other malformations. Since her birth. rectal bleeding. There is no history of infertility. Later on she had intestinal stenosis and abdominal pain was more severe in areas of the bowel with stenosis. Her father and one of her uncle also has a history of Crohn¶s disease while her other uncle is totally healthy and free of symptoms and so is her mother. Maria¶s great-grandfather and grandmother had a history of Crohn¶s disease. She was given breastfeeding for 6months which is normal. She had no previous diseases but the complaints of her back pain resulted in back surgery with negative findings and no relief of symptoms. She smokes a lot like her father and grandmother. The patient has had symptoms for years prior to diagnosis. but one of her son has the disease too. multiple miscarriages. The symptoms were vague initially but she went through periods of flare-ups and remission. Maria¶s brother also has the disease.

Risk Factors: 1. Lips and mouth: thin lips. Upper and lower extremities: without changes except for joint pain. Ear: normal without deformation. Abdomen and pelvis: without changes and no hernias but abdominal pain. Upper and lower jaws: without changes. Urinary tract: without changes. Palate: without changes. back of the head is normal. Diet like increase intake of animal protein. Nose: normal without deformation. Immune deficiency. Skull: the head is of normal form. milk protein. Neck: without changes. Primary diagnosis: Crohn¶s disease of the intestine. Respiratory tract: without changes. Eye: eye pain when exposed to light (photophobia). 3. .The Card of Phenotype. Skin: erythema nodusum. Genitalia: without changes. Smoking. 2. the position of the hair whorls. forehead. Nails: clubbing of the end of the fingers. Spinal column: ankylosing spondylitis. Teeth: without changes. Tongue: without changes. Muscles: without change. Chest: normal form and circumference. Intestinal: intestinal stenosis that leads to obstruction. Genetic predisposition. Heart: without changes. Endocrine glands: without changes. red nodules appearing on the back and on shins. etc. Weight: 60kg Height: 165cm Structure: normosthenic. 4.

as recurrence often reappears in previously unaffected areas of the intestine. and are usually only done when there is a risk of short bowel syndrome due to repeated resection surgeries. including bowel cancer. y Proper hydration. y Regular exercise. 1. sulfasalazine) and corticosteroids(prednisone. . y Immunomodulators(azathioprine. Crohn's disease is a chronic condition for which there is currently no cure. 2. methotrexate. 3. Otherwise. small intestine cancer and fibrostenotic strictures. budesonide) to reduce inflammation. y Eating small meals frequently may also help with low appetite. Neither type of surgery cures Crohn's disease. Prognosis. It is characterised by periods of improvement followed by episodes when symptoms flare up. etc). most people achieve a healthy height and weight.Treatment. However. when strictureplasty (expansion of the stricture) is sometimes performed.. mercaptopurine. With treatment. infliximab. colon cancer. adalimumab. resection and anastomosis is the surgery usually performed for Crohn's disease (e. y Aminosalicylate anti-inflammatory drugs(mesalazine. and the mortality rate for the disease is relatively low. Lifestyle changes: y Smoking cessation. and for other complications. certolizumab. y Dietary adjustments and also identifying foods that trigger symptoms and also balanced diet. small bowel obstruction. Crohn's disease is associated with an increased risk of small bowel and colorectal carcinoma.g. Surgery is often used to manage complications of Crohn's disease. including fistulae. healthy diet and enough sleep can help fatigue. Medications: y Antibiotics to treat infections. Small intestine transplants are experimental as of yet. ileocolonic resection).

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