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Results: 1 to 20 of 47

1.

Polycystic kidney dysplasia

The presence of multiple cysts in both kidneys. [from HPO]

MedGen UID:
427793
Concept ID:
CN000111
Finding
2.

Abnormality of the kidney

An abnormality of the `kidney` (FMA:7203). [from HPO]

MedGen UID:
427390
Concept ID:
CN000077
Finding
3.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748
4.

Polycystic kidney disease, adult type

Polycystic kidney disease is an autosomal dominant disorder with the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney Disease Polycystic kidney disease-2 (613095) is caused by mutation in the PKD2 gene (173910) on chromosome 4q21-q23. At least 1 other locus exists; see 600666. [from OMIM]

MedGen UID:
88404
Concept ID:
C0085413
Congenital Abnormality
5.

Polycystic kidney disease, infantile type

Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of congenital hepatorenal fibrocystic syndromes and is a cause of significant renal and liver-related morbidity and mortality in children. The majority of individuals with ARPKD classically present in the neonatal period with enlarged echogenic kidneys. Renal disease is characterized by nephromegaly, hypertension, and varying degrees of renal dysfunction. More than 50% of children with ARPKD who have a classic presentation progress to end-stage renal disease (ESRD) within the first decade of life; ESRD may require kidney transplantation. Pulmonary hypoplasia resulting from oligohydramnios occurs in a number of affected infants. Approximately 30% of these infants die in the neonatal period or within the first year of life from respiratory insufficiency or superimposed pulmonary infections. With neonatal respiratory support and renal replacement therapies, the long-term survival of these infants has improved to greater than 80%. Hepatobiliary disease is characterized by hepatomegaly, splenomegaly, a risk of ascending cholangitis and progressive portal hypertension. At initial presentation, approximately 40%-60% of infants have biliary abnormalities leading to hepatomegaly due to dilated intrahepatic (and occasionally extrahepatic) biliary ducts. Up to 70% of affected individuals, including long-term survivors with classic presentations and those who present with predominantly hepatobiliary disease, develop portal hypertension due to progressive periportal fibrosis; bleeding from esophageal varices contributes significantly to the morbidity and mortality of the disease. A subset of affected individuals will develop recurrent or persistent bacterial ascending cholangitis due to dilated bile ducts and stagnant bile flow. An increasing number of affected individuals surviving the neonatal period will eventually require portosystemic shunting or liver transplantation for complications of portal hypertension or cholangitis. The classic neonatal presentation of ARPKD notwithstanding, there is significant variability in age and presenting clinical symptoms related to the relative degree of renal and biliary abnormalities. [from GeneReviews]

MedGen UID:
39076
Concept ID:
C0085548
Congenital Abnormality
6.

Polycystic Kidney Diseases

Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance. [from MeSH]

MedGen UID:
9639
Concept ID:
C0022680
Anatomical Abnormality
7.

Kidney disease

Your kidneys are two bean-shaped organs, each about the size of your fists. They are located near the middle of your back, just below the rib cage. Inside each kidney about a million tiny structures called nephrons filter blood. They remove waste products and extra water, which become urine. The urine flows through tubes called ureters to your bladder, which stores the urine until you go to the bathroom. . Most kidney diseases attack the nephrons. This damage may leave kidneys unable to remove wastes. Causes can include genetic problems, injuries, or medicines. You are at greater risk for kidney disease if you have diabetes, high blood pressure, or a close family member with kidney disease. Chronic kidney disease damages the nephrons slowly over several years. Other kidney problems include:: -Cancer. -Cysts. -Stones. -Infections. Your doctor can run tests to find out if you have kidney disease. If your kidneys fail completely, a kidney transplant or dialysis can replace the work your kidneys normally do. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
8.

Chronic granulomatous disease

A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. [from MeSH]

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
9.

Renal impairment

Conditions in which the KIDNEYS perform below the normal level in the ability to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism. Renal insufficiency can be classified by the degree of kidney damage (as measured by the level of PROTEINURIA) and reduction in GLOMERULAR FILTRATION RATE. [from MeSH]

MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
10.

proven venom

MedGen UID:
195973
Concept ID:
C0700164
Pharmacologic Substance
11.

Course of illness

Stages or progression of physical or mental disorders. Compare PROGNOSIS. [from PSY]

MedGen UID:
116631
Concept ID:
C0242656
Pathologic Function
12.

Cyst

A sac or capsule in the body. It may be filled with fluid or other material. [from NCI]

MedGen UID:
41396
Concept ID:
C0010709
Disease or Syndrome
13.

Marriage

The social institution involving legal and/or religious sanction whereby men and women are joined together for the purpose of founding a family unit. [from MeSH]

MedGen UID:
9894
Concept ID:
C0024841
Finding
14.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
15.

Hypertensive disorder

Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps out blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is the diastolic pressure. . Your blood pressure reading uses these two numbers, the systolic and diastolic pressures. Usually they are written one above or before the other. A reading of : -119/79 or lower is normal blood pressure. -140/90 or higher is high blood pressure. -Between 120 and 139 for the top number, or between 80 and 89 for the bottom number is prehypertension. High blood pressure usually has no symptoms, but it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. You can control high blood pressure through healthy lifestyle habits and taking medicines, if needed. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
16.

Fibrosis

The formation of fibrous tissue; fibroid or fibrous degeneration. [from NCI]

MedGen UID:
5179
Concept ID:
C0016059
Pathologic Function
17.

Consanguinity

The magnitude of INBREEDING in humans. [from MeSH]

MedGen UID:
3213
Concept ID:
C0009789
Finding
18.

Renal cyst

A cyst is a fluid-filled sac. There are two types of kidney cysts. . Polycystic kidney disease (PKD) runs in families. In PKD, the cysts take the place of the normal tissue. They enlarge the kidneys and make them work poorly, leading to kidney failure. When PKD causes kidneys to fail - which usually happens after many years - people need dialysis or kidney transplantation. About half of people with the most common type of PKD end up with kidney failure. PKD also causes cysts in other parts of the body, such as the liver. . Symptoms of PKD include: -Pain in the back and lower sides. -Headaches. -Urinary tract infections. -Blood in the urine. Doctors diagnose PKD with imaging tests and family history. Treatments include medications, and, when people with PKD develop kidney failure, dialysis or kidney transplants. Acquired cystic kidney disease (ACKD) usually happens in people who are on dialysis. Unlike PKD, the kidneys are normal sized, and cysts do not form in other parts of the body. People with ACKD already have chronic kidney disease when they develop cysts. ACKD often has no symptoms. In most cases, the cysts are harmless and do not need treatment. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
776573
Concept ID:
C2173677
Finding
19.

Error occurred: cannot get document summary

ID:
775793

20.

Alive

MedGen UID:
749206
Concept ID:
C2584946
Finding

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