Lesch Nyhan Syndrome

DMD also only affects males, but women can unknowingly be carriers of the disease. They may not know they carry it if they have no brothers or were adopted.

Most people have never had the privilege to meet a child living with Smith-Lemli-Opitz Syndrome, SLOS for short. In fact, most people have never even heard of the disease. I have been able to spend time with a SLOS child and her wonderful family for the past 4 years. Audrey Bowers is a beautiful 5 year old girl who is severely impaired due to her genetic condition. SLOS is a rare metabolic disorder caused by a mutation in a gene found on chromosome 11. This specific gene corresponds to an enzyme that aids in the production of cholesterol within the body (Smith). Children with SLOS, like Audrey, are unable to produce enough cholesterol which leads to significant deficits in mental and physical development.

Seckel Syndrome reported by Mann and Russel in 1959, this condition was extensively studied by Seckel in 1960. More precise criteria for diagnosis have been recently been set forth.

Studies have shown that 80 mg of Uloric was able to get 30% more patients than 300 mg of allopurinol to a healthy uric acid level (<6 mg/dL). Even though in the study Uloric seems to be more effective in managing hyperuricemia, I believe that this is not a fair comparison because 300 mg daily of allopurinol is only given in patients with mild gout. When comparing 40 mg Uloric with 300 mg allopurinol, the number of patients who reached a healthy uric acid level was equal. It is shown that patients with mild to moderate kidney problems do not have to take a lower dose which seems like a major advantage for using Uloric, but in the study only a small number of patients with severe kidney problems were studied. Patients with kidney problems have to take a lower dose of allopurinol; the dose of allopurinol is only decreased in patients with a creatinine clearance (CrCl) of less than 20 mL/minute, which to me seems that the patient is experience severe kidney

Lesch-Nyhan syndrome is a rare condition that affects boys at a young age and approximately 1 in every 380,000 births. Boys with this disease get kidney stones, develop uncontrollable urges to hurt themselves and cannot control their muscles. Lesch-Nyhan syndrome was first discovered by Michael Lesch and William Nyhan in 1964 and shortly after, it was found that this disease was an X-linked genetic disorder which means that it is inherited from the mother. It wasn’t until 1985 that scientists discovered the gene that was responsible for this syndrome. The gene HPRT, hypoxanthine phosphoribosyltransferease, controls the production of certain chemicals in the body called purines; ATP is a purine. Males get this disease when there is a mutation

Jackson-Weiss Syndrome (JWS) is an inherited genetic disorder rarely seen in most countries. Mutation in a specific gene responsible for development of fatal bone tissue causes overstimulation of bone cell growth, which bring about the abnormalities in growth and development of the bones. JWS is inherited in an autosomal dominant manner, which means the disorder have a 50% chance of being pass down to future generation. The symptoms of JWS varies greatly depending of the severity of the disorder, it can also be extremely variable even if patients are of the same family. Most individuals with JWS has craniofacial abnormalities such as, early fusion of fibrous joints between some particular bones in the skull, which severely affects the shape

The disorder I am researching is called diabetes, it doesn't have any other name.Diabetes affects both females and males. This disorder is genetic because it is in their chromosomes. It's passed from parents to offspring by the chromosomes the parents pass.

Kleine – Levin Syndrome, also known as “Sleeping Beauty” syndrome, is a rare sleep disorder which is characterised by recurring periods and excessive amounts of sleep. In addition to over sleeping, the behaviour of an individual will experience an alteration in behaviour and a lowered understanding of the world. The condition is much more prevalent in teenagers, however, can make an appearance in both younger children and adults. The likelihood of having KLS is approximately 1 in a million, with approximately 70% of all sufferers being male. Kleine- Levin Syndrome is present in the form of episodes, which can last anywhere from a few days anywhere to a couple of months, however these cases are quite rare. The individual will often experience

In most cases, when the patient has some kind of complication such as kidney tissue damages, excessive pain during urination, hematuria, and difficulty passing out the stones or the stones is too large to pass through urine, then surgery will be the only alternative. In Mr. Sanchez situation he might not need surgery, but the lithotripsy therapy will be a lifesaver for him. Although his complication is not as severe as these symptoms mentioned above, surgery won’t be an option for

Gout is a metabolic disorder and is the most common form of inflammatory arthritis which causes acute and painful flares in the joints of the foot, knee, hand and wrist with the deposition of urate crystals. Hyperuricemia is an important risk factor the development of gout which is characterised by high levels of uric acid in blood. Uric acid is the end product of purine nucleotide formed by the oxidation of xanthine and hypoxanthine by the enzyme xanthine oxidoreductase.Impaired xanthine oxidase activity appears involved in the onset of hyperuricemic conditions associated with hypertension, diabetes, and metabolic syndrome, renal and cardiovascular diseases. The prevalence of gout has been increased worldwide indicating the need for improved

The first is preventative. Gout is a metabolic disease that is predetermined by out genetics or brought on by certain medical conditions mentioned above. Controlling these medical conditions will help reduce the chance of getting gout. In addition, if one has gout through heredity there are some things that can be done to decrease like frequency of attacks. Diet is a primary way to control it. There are many foods that can increase the level of uric acid in the body and subsequently results in gout attacks. Foods with high amounts of uric acid include red meats, organ meat, shell fish, turkey, sardines, and anchovies (CDC, 2018). In addition alcohol can increase the level of uric acid in the blood by inhibiting the elimination of uric acid through the kidneys. Also foods or liquids high in fructose increase uric acid (CDC 2018). There are foods that help or are protective against gout and high blood levels of uric acid: vitamin C, Bing cherries, coffee, and low-fat dairy products (Paul & James, 2017) in addition to staying well hydrated. The other arm of treatment is biochemical. There are medicines that treat the acute symptoms of a gout attack including colchicine, non-steroidal anti-inflammatory medicines such as motrin, and prednisone; and there are medicines that are used long term to decrease the uric acid level in the body, these include medicines such as allopurinol and febuxostat (CDC, 2018). It is important to

Lesch-Nyhan Syndrome affects the renal system, central nervous system, and in some cases the circulatory system. The cause of juvenile gout associated with LNS is the over production of uric acid or hyperuricemia. As the body continues to make too much uric acid the result is tophus or uric acid crystals. These crystals collect under the skin and between the joints as tophi (under the skin) (Fig. B) or between the joints causing gout (Fig C). There is also a present uric acid crystals in the urine, this is known as uric acid crystalluria (Fig D.), if the stones are large they can be large enough to get stuck traveling through the ureters to the bladder. “If a large stone gets stuck in the kidney or on its way to the bladder, it

Lesch-Nyhan Syndrome (LNS) was first described at John Hopkins Hospital in 1964 by Micheal Lesch and William Nyhan in two brothers with an unusual set of symptoms. Both brothers presented severe retardation of motor development, choreoathetosis, dystonia, an enormous amount of crystals in the urine (later determined to be composed of uric acid), and most strikingly, self-mutilation (1). Upon publication of their results, other cases were recognized across the world, all in young males in an inheritance pattern consistent with an X-linked Mendelian genetic disorder (2). More clues into the cause of LNS were provided by further studies by Nyhan, which demonstrated that azathioprine, a drug known to lower levels of uric acid in the blood, was

Lesch-nyhan syndrome is a disease caused by defection of enzyme due to genetical disorder. Enzyme which lacks is hypoxanthine-guanine phosphoribosyltransferase (HPRT). This enzyme is responsible for using purine embodied within nucleic acid. Because of this, blood is filled with excessive uric acid and purine which leads to hyperuricemia and sever gout. Uric acid and purine forms crystalline structure in kidney and joints. This disease come from disorder in X chromosome in DNA, so this disease is found mostly on male. Although there are reported cases in female, but it’s rare. The disease is found usually via abnormal behavior in child ages between 1 and 2 years old. Mental retardation, biting fingers and lips are common.

Non contrast enhanced spiral CT scan was done for all patients to confirm diagnosis and detect the precise site and size of the stone. Pain management consisted initially of diclofenac sodium 75 mg, pethidine 1mg/kg was given to patients failed to respond to initial pain management. Study Design: Eligible patients were stratified into group I (emergency URS done within 24 hours from presentation) if they had intractable renal pain with score ≥ 7 in Verbal Numerical Rating Scale despite of narcotic analgesia.