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Niemann Pick Disease ( foreshorten as NPD ) implies a group of disease , which passed down from inherited families , where fatty substances i.e. lipids accumulate within the cell of the genius , liver , and spleen . Niemann Pick Disease mainly takes place three unlike chassis i.e. Type A , Type B , and Type C. Each type has the involvement of different pipe organ . In some cases , Niemann Pick Disease may regard respiratory and unquiet systems , while others do not.(1 )
What Are The First Symptoms Of Niemann Pick Disease?
Initially , Niemann Pick Disease add up with the following sign and symptoms-
Symptoms of Niemann Pick Disease According to Specific Types
Type A Niemann Pick Disease
Signs and symptom in case of eccentric A Niemann Pick Disease stay present within the initial few month of a patient . These are-
Type B Niemann Pick Disease
symptom in grammatical case of Type B Niemann Pick disease often come in during the adolescence or afterwards childhood . Accordingly , the symptom include-
Type C Niemann Pick Disease
symptom of Type C Niemann Pick Disease often start in children from 5years old . Common signs and symptom include-
How Do You Test For Niemann Pick Disease?
Diagnosis of Niemann Pick Disease start with a veritable forcible examination . Accordingly , it shows initial waning symptoms in the form of an magnified irascibility and enlarged liver . Also , your doctor will collect your details related to medical story and hash out various symptom as well as history about your family wellness . In most of the typesetter’s case , symptom of Niemann Pick disease are befuddle I with various other diseases . Because of this , diagnosing proficiency , in this case , calculate on the specific case of Niemann Pick Disease .
Type A or Type B : Diagnose in this display case involve the exercise of a skin or blood sample i.e. biopsy , harmonise to which medico quantify the amount of sphingomyelinase present in the affected role ’s white blood line cells to confirm the presence of Type A or Type B Niemann Pick Disease .
Type C : Experts direct a small sampling skin test to get at the number of cell , which move and store the cholesterol levels in grammatical case of Niemann Pick disease .
Along with this , doctors recommend a few other tests to diagnose Niemann Pick Disease ( regardless of its eccentric ) .
Eye Examination : A even eye examination shows various signs , including the problem of eye drive difficulties , which show the job of Niemann Pick disease .
Magnetic Resonance Imaging : MRI i.e. Magnetic Resonance Imagingof the patient ’s brain indicates the loss of brainiac cells . However , the job , in this event , is that initially MRI shows normal resultant role , as symptom often take place before the brain cells ’ loss .
Prenatal Ultrasound Test : Prenatalultrasoundtest detects theenlarged spleenand liver , which chiefly take position due to type C Niemann Pick Disease . Moreover , doctors use a chorionic villus and amniocentesis sampling method to support the diagnosis of Niemann Pick disease .
Genetic Test : Genetic test or deoxyribonucleic acid trial of a specific ancestry sample highlight the unnatural genes , which make each of the three different types of Niemann Pick disease . DNA tests also highlight the carriers for each case of Niemann Pick Disease if mutant cite in the first soul within a family .
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