Renal Tubular Acidosis (RTA

The whole terminology of renal tubular acidosis can be confusing to the newcomer. Important features to grasp are: The acidosis refers to the plasma, not the contents of the renal tubules. Indeed, in classical (type I) renal tubular acidosis the urine is often alkaline. Thus renal tubular acidosis is a metabolic acidosis of renal tubular origin. There are three main types, named I, II and IV. Type III has become obsolete. The three types have different sites of localisation in the renal tubule. However, again the terminology is confusing in that type II is proximal, type I distal.

Renal tubular acidosis type I Type I renal tubular acidosis is caused by a defect in the distal convoluted tubule which prevents the normal acidification of the urine. There is a failure in acid excretion. RTA-I may be inherited or may be secondary to other renal disease.

Renal tubular acidosis type II Type II renal tubular acidosis is caused by a defect in the proximal convoluted tubule which prevents the normal reabsorption of bicarbonate ions. RTA-II may be an isolated phenomenon or more commonly, be one of the features in patients with Fanconi's syndrome.

Renal tubular acidosis type IV Type 4 renal tubular acidosis occurs in diseases and conditions associated with a failure of aldosterone action or hypoaldosteronism. In this type of renal tubular acidosis, the acidosis is a result of loss of pH regulation secondary to hyperkalaemia. The pH of the urine is usually below 5.4, and there is hyperkalaemia, secondary to hypoaldosteronism - mineralocorticoid deficiency causes a reduction in secretion of H+ in the distal nephron and a reduction in NH4+ sectretion. Other features include hyperchloraemic metabolic acidosis. Treatment is with modest doses of bicarbonate and mineralocorticoid replacement.

Bullous Pemphigoid
The bullae are formed by an immune reaction, initiated by the formation of IgGautoantibodies targeting the type XVII collagen component of hemidesmosomes. It can also rarely involve the mucous membranes. Following antibody targeting, a cascade of immunomodulators results in a variable surge of neutrophils, lymphocytes and eosinophils coming to the affected area. Unclear events subsequently result in a separation along the dermal-epidermal junction and eventually stretch bullae.Clinically the earliest lesions may appear urticarial (like hives). Tense bullae eventually erupt, most commonly at the inner thighs and upper arms but the trunk and extremities are frequently both involved. Any part of the skin surface can be involved. Milia are more common with epidermolysis bullosa acquisita (EBA), because of the deeper antigenic targets. A more ring-like configuration, with a central depression or centrally collapsed bullae may indicate linear IgA disease. The disease may be acute, but typically will wax and wane.Diagnosis is based on two biopsies of the skin, one submitted for routine H&E staining and one for immunofluorescence studies.Treatments include Class I topical steroids (clobetasol, halobetasol, etc.) which in some studies have proven to be equally as effective as systemic, or pill, therapy and somewhat safer. However, in difficult to manage or widespread cases, systemicprednisone and powerful steroid-free immunosuppressant medications such as methotrexate, azathioprine ormycophenolate mofetil may be appropriate.

also old scars may darken. The occurrence of Addison's Disease in someone who also has Hashimoto's thyroiditis is called Schmidt syndrome. nipple. diarrhea. Inborn errors (maple syrup urine disease (MSUD). sweating. 3. Hyperinsulinism (maternal diabetes . headache. anxiety. After production in anterior pituitary gland. autoimmune thyroid disease (Hashimoto's thyroiditis and goiter) and vitiligo often occur together with Addison's (often in the setting of Autoimmune polyendocrine syndrome). ACTH and Beta-lipotropin. or an intercurrent problem (e.islet cell hyperplasia . 2. trauma) in someone known to have Addison's disease. characteristic sites are skin creases (e. 6.islet cell adenoma). Endocrine causes (panhypopituitarism. The most common symptoms are fatigue.g. This may be the result of either previously undiagnosed Addison's disease. including areas not exposed to the sun.adrenal insufficiency). The subunit ACTH undergoes further cleavage to produce Alpha-MSH.Addison's Disease The symptoms of Addison's disease develop insidiously. This occurs because melanocytestimulating hormone (MSH) and adrenocorticotropic hormone (ACTH) share the same precursor molecule. tyrosinaemia). lower back or abdomen * Severe vomiting and diarrhea.[Affected individuals may note increased tanning since adrenal insufficiency is manifested in the skin primarily by hyperpigmentation.Beckwith-Wiedemann syndrome Nesidioblastosis . symptoms and signs of any of the former conditions may also be present in the individual with Addison' transfusion Lateral Medullary Syndrome / Wallenberg Syndrome / PICA Syndrome . changes in mood and personality. FFTTT Causes of neonatal hypoglycaemia can be classified as follows: 1. Decreased production (prematurity . and it may take some time to be recognized. muscle weakness. vomiting. infection. of the hands). . Some have marked cravings for salt or salty foods due to the urinary losses of sodium.glycogen storage disease glactosaemia). skin darkening does not occur. the following may be noticed:* Low blood pressure that falls further when standing (orthostatic hypotension) * In long-standing Addison's Disease. 5. . Characteristic symptoms are: * Sudden penetrating pain in the legs. On examination. Proopiomelanocortin (POMC). nausea. lightheadedness upon standing or while upright. . resulting in dehydration * Low blood pressure * Syncope (loss of consciousness and ability to stand) * Hypoglycemia * Confusion. Hence. Increased utilization (hypothermia ± polycythaemia ± asphyxia ± sepsis). POMC gets cleaved into Gamma-MSH. It is a medical emergency and potentially life-threatening situation requiring immediate emergency treatment. the pinna of the ear may become calcified * Most people with primary Addison's have darkening (hyperpigmentation) of the skin. weight loss. In secondary and tertiary forms of Addison's.g. slurred speech * Severe lethargy * Hyperkalemia * Hypercalcemia * Convulsions * Fever The following are associated with neonatal hypoglycaemia. and the inside of the cheek (buccal mucosa). thiazides).proprionic acidaemia.ntrauterine growth retardation . * Medical conditions such as type I diabetes. the most important MSH for skin pigmentation. Miscellaneous (maternal drugs (beta agonists/blockers. difficulty in standing up. 4. An "Addisonian crisis" or "adrenal crisis" is a constellation of symptoms that indicate severe adrenal insufficiency. psychosis. a disease process suddenly affecting adrenal function (such as adrenal hemorrhage). fever. joint and muscle pains.

The radiographic findings are unusual. * Lacerations. CA II deficiency provides significant insight concerning CA II in renal regulation of acid/base homeostasis and osteoclast-mediated bone resorption. sometimes with hypokalemia. in that cerebral calcification appears by early childhood and the osteosclerosis and skeletal modeling defects may gradually resolve by adulthood. a razor or a glass splinter. Damage to the hypothalamospinal fibers disrupts sympathetic nervous system relay and gives symptoms analogous to Horner syndrome. sharp-edged object such as a knife. irregular tear-like wounds caused by some blunt trauma. cranial nerve compression. Typical radiographic features of osteopetrosis are present. It is discovered late in infancy or early in childhood through developmental delay. Prenatal diagnosis has not been reported. short stature. caused from involvement of the region of Deiters' nucleus and other vestibular nuclei. diplopia. nystagmus. Clinical symptoms include difficulty swallowing. Several different mutations within the CA II gene have been identified. Nearly 50 cases have been described. Nystagmus and vertigo. Horner syndrome. The damage to the cerebellum or the inferior cerebellar peduncle can cause ataxia. This crossed finding is diagnostic for the syndrome. and possibly palatal myoclonus. and histopathologic study of the iliac crest reveals unresorbed calcified primary spongiosa. Delineation of CA II deficiency establishes an important role in humans for CA II. * Abrasions (grazes). Palatal myoclonus may be observed due to disruption of the central tegmental tract. dental malocclusion. fracture. and the long-term outcome remains to be characterized. resulting in loss of pain and temperature sensation to the opposite side of the body. weakness. predominantly from the Middle East and Mediterranean region. A hyperchloremic metabolic acidosis. The types of open wound are: * Incisions or incised wounds. superficial wounds in which the topmost layer of the skin (the epidermis) is scraped off. however. Patients are usually not anemic. and/or mental subnormality. or dysphagia. Wounds: Open wounds can be classified according to the object that caused the wound. as well as slurred speech (dysarthria)and disordered vocal quality ( dysphonia ) . vertigo. facial pain. The spinothalamic tract is damaged. however. Onset is usually acute with severe vertigo. There is no established medical therapy. which may result in falling. Specifically. The pathogenesis of the mental subnormality and cerebral calcification is poorly understood.slurred speech. distal. Affected persons have difficulty in swallowing (dysphagia) resulting from involvement of the nucleus ambiguus. as well as an absent corneal reflex. caused by a clean. . Abrasions are often caused by a sliding fall onto a rough surface. The term laceration is commonlymisused in reference to incisions. is caused by renal tubular acidosis that may be a proximal. Carbonic anhydrase (CA) isoenzyme II deficiency² formerly called the syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification--is an autosomal recessive "inborn error of metabolism" that has disclosed important insight concerning osteoclast function. Damage to the spinal trigeminal nucleus causes absence of pain on the ipsilateral side of the face. or combined type. ataxia. there is a loss of pain and temperature sensation on the contralateral (opposite) side of the body and ipsilateral (same) side of the face.This syndrome is characterized by sensory deficits affecting the trunk (torso) and extremities on the opposite side of the infarction and sensory deficits affecting the face and cranial nerves on the same side with the infarct.

benign intracranial hypertension and many other diagnoses may be supported or excluded with this test. * Crush injury. Chronic wounds are those that are caused by a relatively slow process that leads to tissue damage. Once the appropriate location is palpated. It may also be used to detect the presence of malignant cells in the CSF. and in the subarachnoid space. The types of closed wounds are: * Contusions. The procedure is ended by withdrawing the needle while placing pressure on the puncture site. it can spread locally or become systemic (sepsis). Chronic wounds include pressure. hydrocephalus. an insufficiency in the circulation or other systemic support of the tissue causes it to fail and disintegrate. due to increased sensitivity when the needle is inserted to collect the cerebrospinal fluid. generally referred to as a "through-and-through. Young infants commonly require lumbar puncture as a part of the routine workup for fever without a source. If the patient is over 65. was named after the procedure. In performing a lumbar puncture. particularly for spinal anesthesia or chemotherapy. The area around the lower back is prepared using aseptic technique. from the 1984 film This Is Spinal Tap. caused by a bullet or similar projectile driving into or through the body. Once the infection hits a critical point. caused by a great or extreme amount of force applied over a long period of time. The needle is again pushed until there is a second 'give' that indicates the needle is now past the arachnoid mater. In any age group. caused by a blunt force trauma that damages tissue under the skin. as they have a much higher risk of meningitis than older persons and do not reliably show signs of meningeal irritation (meningismus). a life-threatening but highly treatable condition. Whether or not CT brain scan should be performed prior to LP remains controversial. caused by an object puncturing the skin. and cytological analysis. Lumbar punctures can be unpleasant for some people. as in carcinomatous meningitis or medulloblastoma. The exception is therapeutic use of lumbar puncture to relieve ICP. * Hematomas. first the patient is usually placed in a left (or right) lateral position with his/her neck bent in full flexion and knees bent in full flexion up to his/her chest. the patient would often be asked to lie on his/her back for at least six hours and be monitored for signs of neurological problems. There may be two wounds.* Puncture wounds. The opening pressure of the cerebrospinal fluid may be taken during this collection by using a simple column manometer. caused by damage to a blood vessel that in turn causes blood to collect under the skin. The technique described is almost identical to that used in spinal . Typically. but are just as dangerous as open wounds. one at the site of entry and one at the site of exit. though there is no scientific evidence that this provides any benefit. Lumbar puncture: In medicine. microbiological. The stylet from the spinal needle is then withdrawn and drops of cerebrospinal fluid are collected. a lumbar puncture (colloquially known as a spinal tap) is a diagnostic and at times therapeuticprocedure that is performed in order to collect a sample of cerebrospinal fluid (CSF) for biochemical. or very rarely as a treatment ("therapeutic lumbar puncture") to relieve increased intracranial pressure. The fictional band Spinal Tap. Also. * Gunshot wounds. Lumbar punctures may also be done to inject medications into the cerebrospinal fluid ("intrathecally"). can be excluded. approximating a fetal position as much as possible.hypertension with bradycardia and deteriorating consciousness or when there are decreased levels of platelets in the blood (less than 50 x 109/L)." Closed wounds have fewer categories. has seizure activity or focal neurological signs. local anaesthetic is infiltrated under the skin and then injected along the intended path of the spinal needle. has a reduced GCS. The most common purpose for a lumbar puncture is to collect cerebrospinal fluid in a case of suspectedmeningitis. It is also possible to have the patient sit on a stool and bend his/her head and shoulders forward. subarachnoid hemorrhage. abnormal respiratory pattern. also called a blood tumor. Lumbar puncture should not be performed when idiopathic (unidentified cause) increased intracranial pressure (ICP) is present. In the past. A spinal needle is inserted between the lumbar vertebrae L3/L4 or L4/L5 and pushed in until there is a "give" that indicates the needle is past the dura mater. * Penetration wounds. consideration should be given to CT. * Chronic and Acute Acute or traumatic wounds are the result of injuries that disrupt the tissue.Ophthalmoscopy for papilledema should also be performed prior to any LP to check for raised ICP. Infection then takes hold of the site and becomes a chronic abscess. lumbar puncture should not be attempted when there is coagulopathy. Lumbar puncture in cases of vertebral deformities (scoliosis or kyphosis) is also contraindicated in hands of an unexperienced physician or physician assistant. caused by an object such as a knife entering and coming out from the skin . such as a nail or needle. and diabetic ulcers. more commonly known as bruises. since there is no other reliable tool with which meningitis. venous.

Explanation: Loose-jointedness is often striking in patients with the Marfan syndrome. long thumb. Diagnostic analysis of changes in fluid pressure during lumbar puncture procedures requires attention both to the patient's condition during the procedure and to their medical history. Rarely the WPW syndrome is related to a nodoventricular accessory pathway or Mahaim bundle and the degree of preexcitation remains unchanged during premature atrial stimulation. It is preferred by some practitioners when a lumbar puncture is performed on an obese patient where having them lie on their side would cause a scoliosis and unreliable anatomical landmarks. On the other hand. Most patients with the Marfan syndrome have myopia and about one-half have subluxation of the lenses (ectopia lentis). The accessory pathway refractory period depends on the driven cycle length. protrusion. and recurrent dislocation of the patellae are manifestations of laxity of ligaments and joint capsules. Depression of the sternum (pectus excavatum). particularly during the adolescent growth spurt. Isoproterenol test was also previously used to verify the efficacy of antiarrhythmic drug before the era of catheter ablation of accessory pathway. because the conduction time does not change in accessory pathway with the shortening of atrial cycle length while it increases in the AV node. Patient anxiety during the procedure can lead to increased CSF pressure. and longitudinal laxity of the hand are the bases for the Steinberg thumb sign: the thumb apposed across the palm extends well beyond the ulnar margin of the hand. opening pressures are notoriously unreliable when measured on a seated patient and therefore the left or right lateral (lying down) position is preferred if an opening pressure needs to be measured. The vertebral column is frequently deformed. leading to progressive dilatation beginning in the sinuses of Valsalva. Scoliosis may involve multiple segments and may progress rapidly. Answer :USMLE step 2 Mcq 362:A patient with symptomatic WPW syndrome undergoes an intracardiac electrophysiological Study Correct Answer: A Explanation: The exact nature of the prexcitation syndrome is assessed. or an asymmetric combination often results. tenses their muscles or flexes their knees too tightly against their chest. especially if the person holds their breath. Atrial fibrillation is easily induced during intracardiac studies by salvos of rapid atrial stimulation and is not specific. resulting in a 'straight back' or an outright thoracic lordosis. The normal thoracic kyphos is often reduced. Flat feet (pes planus). The loss of efficacy of some antiarrhythmic drugs was demonstrated after isoproterenol administration. congenital dislocation of the hips. and fingers. The ascending aorta bears the main stress of ventricular ejection.anesthesia. A relatively narrow palm of the hand. Beta adrenergic stimulation results in shortening of the anterograde refractory period of the accessory pathway and an increase in ventricular rates during atrial pacing and atrial fibrillation. elbows. The upright seated position is advantageous in that there is less distortion of spinal anatomy which allows for easier withdrawal of fluid. except that spinal anesthesia is more often done with the patient in a sitting position. Aortic regurgitation and dissection are the main causes of death. Most of the WPW syndrome are related to a atrioventricular accessory connection or Kent bundle : the degree of prexcitation increases during premature atrial stimulation until the refractory period of accessory pathway is reached.. The induction of an atrial fibrillation by intracardiac programmed stimulation is obtainedin 45% in asymptomatic patients and in 75 % of patients . hyperextensibility at the knees (genu recurvatum). Refractory period of the accessory pathway decreases as the driven cycle length shortens.

Antidromic tachycardia which is a reciprocating tachycardia using the accessory pathway for the anterograde conduction and the normal AV conduction system for retrograde conduction.Ventricular tachyarrhythmias also are easily induced in asymptomatic or symptomatic patients by programmed ventricular stimulation and are not specific in patients with WPW syndrome : the induction of a ventricular fibrillation is noted in 4 % of WPW syndrome and theinduction of nonsustained multiform ventricular tachycardia in 37 % of them. on the interpretation of the duration of induced arrhythmia and on the use of isoproterenol infusion or other means to reproduce the effects of adrenergic stimulation. B Hypoxia. is a rare finding (5%). Early cardiac failure during the neonatal period is often associated with: A Peripheral oedema B Failure to thrive C Feeding difficulties . C Acidosis. D Ejection systolic murmur at the left sternal border. Respiration is stimulated by the following: A Hypercarbia. B Elevated sleeping pulse. D Increased barometric pressure. 3. more frequently noted in young patients with a good retrograde normal VA conduction or in patients with several accessory pathways and seems more frequent in patients at risk of rapid arrhythmias. E Carbon monoxide inhalation. C Sinus arrhythmia. <br> The induction of an atrial fibrillation during transesophageal pacing has a best clinical significance :The incidence of inductionof atrial fibrillation also depends on the presence of an associated heart disease and the age of the patient : the induction of atrial fibrillation is rarely noted in children younger than 10 years.with only documented reentrant tachycardia. The important variations of the incidence of induced atrial fibrillation depends on the technique of programmed stimulation. . is induced in 20 % of teenagers and adults without heart disease and becomes relatively frequent in elderly . 828 questions to master before usmle Questions 1. but represents the most frequent tachycardia of symptomatic patients complaining tachycardia and palpitations (90 %). atrial fibrillation is induced in 95 % of those with documented atrial fibrillation.Orthodromic tachycardia which is a reciprocating tachycardia using the normal AV conduction system for the anterograde conduction and the accessory pathway for the retrograde conduction. Which of the following features supports a diagnosis of carditis in a child suspected of having rheumatic fever? A Pan-systolic murmur in the mitral area. 2. E Pericardial rub. <br> . is rarely induced in asymptomatic patients (< 10%) .

D Episodes of apnoea E A raised pulse rate but normal respiratory rate .

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