My patient 's disease is called Niemann- Pick Disease, it is cause by the mutation of the gene SMPD1. The protein was produced by this gene is called Lysosomal Acid Sphingomyelinase.
The disease was first discovered in 1914. A pediatrician who's name was Albert Niemann published a description about what now is known Niemann-pick disease type A.
There are about 2392 people in the United states has this disease, that led the incidence rate to 0.00075%. There will be one of every 250,000 people have the Niemann-pick type A or B, and one of every 150,000 people have Niemann-Pick type C, therefore the incidence rate worldwide is about 0.00025%.
Especially Ashkenazi Jews, their incidence rate is much higher than other people in the world. There is one person in 40,000 Ashkenazi Jews who had the Niemann-Pick disease type A.
The symptoms of Niemann-Pick includes difficulty moving limbs(dystonia), enlarged spleen and liver, jaundice at (or shortly after) birth, learning difficulties and intellectual decline(dementia), seizures, slurred, irregular speech, sudden loss of muscle tone which may lead to falls(cataplexy)
Diagnoses: Niemann-Pick disease was SMPD1 associated, it has type A,B and C. Type A was diagnosed as classic infantile. Type B was diagnosed as visceral. Type C is subacute/juvenile, this is the most common type, type C includes C1 and C2. Type C2 is a rare form.
Treatment:There is not yet a specific treatment for Niemann-Pick type A, but symyoms are treated. The physicians tried to come up with something on the patients who has Niemann-Pick type B. They tried to keep cholesterol levels down to a normal level. If statins are used, they monitor liver. If patients have symptoms of interstitial lung disease, that means they may need oxygen. A big medicine diagnose was discovered, it is the drug miglustat. This drug have been approved in the European Union for the treatment of progressive neurological manifestations in adult patients and pediatric patients with NPC. A improvement was made to the drug in 2010, before its final approving in the U.S. for NPC.
About 85% cases of Niemann-Pick disease type A has an very poor prognosis, most of the causing being fatal by the age of 18 months. On the other hand, type B and C have a better prognosis.
Niemann-Pick inherited in an autosomal recessive pattern. This means both alleles or copies of the gene must be defective to cause the disease, the word "defective'' means when they are altered in a way that impairs their function.
A discover of dosing in a placebo-controlled phase II/III clinical trial to investigate treatment for Niemann- Pick type C( includes the patients who have C1 and C2), using arimoclomol began in 2016.
Source 1: "Sphingomyelin phosphodiesterase isoform 1 precursor [Homo sapiens] - Protein - NCBI." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 05 Feb. 2017.
Source 2: "SMPD1 sphingomyelin phosphodiesterase 1 [Homo sapiens (human)] - Gene - NCBI." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 05 Feb. 2017.
Source 3: "Niemann–Pick disease." Wikipedia. Wikimedia Foundation, 02 Feb. 2017. Web. 05 Feb. 2017.
Source 4: DM, Krasnewich. "Niemann Pick Disease." The New York Times. N.p., 12 July 2012. Web.
Picture 1:"Niemann–Pick disease." Wikipedia. Wikimedia Foundation, 02 Feb. 2017. Web. 05 Feb. 2017.
Picture 2: "Klinik für Anästhesiologie und Intensivmedizin Sepsis - induzierte SMPD1 - Modulation." Klinik für Anästhesiologie und Intensivmedizin Sepsis - induzierte SMPD1 - Modulation. N.p., n.d. Web. 05 Feb. 2017.
Picture 3: "Inhibition of acid sphingomyelinase by tricyclic antidepressants and analogons." Frontiers. N.p., n.d. Web. 05 Feb. 2017.
Picture 4: Mso.net. "Niemann-Pick type C (NP-C) symptoms - Health Care Professionals." Xx. N.p., n.d. Web. 05 Feb. 2017.