Polycystic kidney disease (PKD) is a severe form of hereditary disease which results from a monogenic disorder. The disease causes enlargement alongside with functional impairment. It results in clusters of cysts mainly within the kidneys. Cysts are noncancerous round sacs consisting of water like fluid which vary in size depending on its accumulating growth (Mayo Clinic Staff, 2014). This cystic disease consists of two forms, an autosomal dominant PKD (ADPKD) and an autosomal recessive PKD (ARPKD). The purpose of this research paper is to increase chances of healthy babies born to couples whom both transmit a mutation of PKHD1 gene, wanting to have a child unaffected with autosomal recessive polycystic kidney disease (ARPKD). A recessive mutation/disease is when the gene is inherited from both parents. This disease is of major interest due to the amount of individuals affected widely. Over 12.5 million individuals have PKD, with approximately 30% of affected children dying within their first year of life; making it a major source of morbidity and mortality concern (Miyazaki et al., 2015). ADPKD makes up to 96-98% of all cases, and ARPKD up to 2-5%. Although ADPKD is more harmful, the main focal point of this research paper is on autosomal recessive polycystic kidney disease (ARPKD). Due to the abnormalities in the biliary plates it leads to congenital hepatic fibrosis in infants. Congenital hepatic fibrosis is the disease of the liver which is usually present from birth.
How Drinking Causes Gut Microbe Imbalance Linked to Liver Disease is an article that builds on the common knowledge that alcohol consumption damages the liver. The liver is the organ in the body that filters out everything in your bloodstream that may harm you, for example alcohol. It also produces a substance called bile that breaks down lipids. For these reasons, the liver is a very important organ in the digestive system in the body and this article shows how alcohol damages it.
Cirrhosis is the 11th leading cause of death by disease in the United States. Almost one half of these are alcohol related. About 25,000 people die from cirrhosis each year.
ADPKD is a genetically heterogenous disease with mutations in either PKD1 or PKD2 gene. PKD1 gene is located at chromosome 16p13.3 and PKD2 gene localizes to 4q21-22. In Western population about 85% have mutations in PKD1 gene and rest 15% has PKD2 mutations (23-25% in some populations). Patients with mutation in PKD1 gene have more severe phenotype and an early onset disease than those linked to PKD2. Though most of the ADPKD patients have positive family history, about 10% have de-novo mutations. Asymptomatic at-risk family members have 50% chance of inheriting the disease. Previously reported studies have suggested a possibility of a third locus in families that did not relate to mutations in PKD1 or PKD2 gene. However
Since Polycystic Kidney Disease is inherited, healthcare providers will review patient’s family history. They will also do a complete blood count (CBC) to look for anemia or signs of infection. Another test that will be ordered
The liver is the largest gland and second largest organ in the human body. It is also the only internal organ capable of regeneration following injury. Located in the abdominal cavity, this reddish brown organ is divided into lobes of different size and shape. The liver plays a critical role in metabolism, digestion, elimination, and detoxification, among other processes. This organ performs a surprisingly large number of functions that influence virtually all other body systems. This is why diseases of the liver can be so devastating. One class of chronic diseases affecting the liver is cirrhosis. (Kasper, 2008)
Polycystic Kidney Disease is an inherited disease that can also form from having existing kidney problems. It is when cysts develop in the kidney and interferes with the filtering of waste from the blood. The cyst in the kidney can lead to inflation and kidney failure, hence as to why it is the fourth leading cause to kidney failure. There are three cases of PKD, these includes Autosomal Dominant PKD (ADPKD), Autosomal Recessive PKD (ARPKD) and Acquired Cystic Kidney Disease (ACKD). These types of PKD are determined on how and when you get the disease or how prone to it you are.
Choice “C” is the best answer. First- and second-degree relatives of patients with confirmed Wilson disease must be screened for this condition. This condition is due to mutations in the Wilson disease protein (ATP7B) gene. The inheritance pattern is autosomal recessive. A single abnormal copy of the gene is present in 1 in 100 people, who do not develop any symptoms. If a child inherits the gene from both parents, the child may develop Wilson disease. Linkage analysis has been used in family studies for presymptomatic testing; however, the multiplicity of mutations (>200 mutations of ATP7B have been identified) would require screening in a large population of individuals without affected family members, making this endeavor impractical. Therefore, the use of molecular testing is currently limited to screening of family members for an identified mutation detected in the index patient.
The disease Hypertrichosis, also known as “The Werewolf Syndrome,” causes unwanted/abnormal hair growth either in one spot or all over an affected person’s body. There are two main types: Naevoid, and Congenital. Naevoid Hypertrichosis, is where the hair grows in one spot on the body, sometimes the limbs but usually proportional in the facial area. Congenital is where hair covers a majority of the body, sometimes right after birth! In severe cases, the hair becomes colored and remains. Both types are caused by, a spontaneous mutation on the X-Chromosome and a flaw in the pregnancy where the lanugo, instead of it falling off after the 8th month, it continues to grow. Being that the mutation is in
Introduction: Polycystic kidney disease is a genetic disorder, which means that it is inherited from the parent and passed on to further generations. It causes uncontrollable cyst growth within the kidneys, that eventually can lead to kidney failure and the need of a kidney transplant. Five percent of kidney failure is due to this disease alone, (PKD Foundation). Not only can it affect the kidney, but many other organs, and cause a lot of painful symptoms, which will be discussed later in the paper. There are two types of polycystic kidney disease (PKD), one is called Autosomal Dominant Polycystic Kidney Disease (ADPKD), and the other is called Autosomal Recessive Polycystic Kidney Disease (ARPKD).
Due to her Chronic liver disease and its cirrhosis, Gertha’s liver has impaired blood flow which would increase venous blood pressure and lead to portal hypertension. Portal hypertension results in the development of collateral blood vessels becoming distended with blood, becoming varices. The varices are fragile and do not handle pressure well, they are prone to rupturing. The rupturing has caused bleeds to enter Gertha’s gastrointestinal system and lead to her haematemesis, having her body attempt to expel the accumulation of blood.
Phenylketonuria also known as PKU is an inherited metabolic disorder that presents itself soon after a baby is born. According to the US Department of Health and Human Services only one child out of 150,000 is diagnosed with phenylketonuria (2011). For a child to inherit this disorder both of parents have to carry the PKU gene even if they do not have the disease (Mayo, 2014). Even if a woman with PKU is pregnant it does not necessarily mean that their baby will also inherit the disease. Complications with the baby only arise if the mother does not follow the dietary restrictions set by this disease. These complications include small heads, low birth weight, and developmental issues (Mayo, 2014). If a child is diagnosed with this disease, their ability to break down amino acids
On examination patient is neurological unstable, alert with confusion and slurred speech. Patient appears disheveled and have poor hygiene. Nasal cannula in place. Medications reconciliation was reviewed with Tomas. Tomas was unable to given medication doses and frequencies. Pervious medical records reviewed, show Tomas has been admitted at least 3 times in the last month but left against medical advice (AMA).
We all know energy drinks aren't healthy but they sure taste good sometimes. Be that as it may, you will want to rethink your energy consumption these days. According to a new case report, excessive energy drink consumption may cause hepatitis. For all we know, it causes AIDS too.
Hypertrichosis is a unique and rare disease of its time, exemplifying characteristics of having excessive hair growth covering the entire body. Very little is known about this hypertrichosis because of how scarce it is. The manifestation, and genetic causes vary when it comes to this disease as well. These factors as well as others have made this
In November of 2015 I was told I needed a surgery to correct a malformation of my kidneys. The doctor explained that when I was developing in my mothers womb two kidneys formed on my right side. I worried as to what problems it could cause to have a non-functioning duplicated kidney. I was told that without intervention it could be possible to have several bladder infections that would damage my kidneys. I would also have trouble in the future if I decided to want to have children. What worried me most was having damage on my kidneys as it could mean that my kidney or both would stop working for which many people died. I had a small "surgery" in which a small camera was inserted into my bladder up to the kidneys to understand how exactly they