POLYCYSTIC KIDNEY DISEASE/AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE-Ethiology, pathogenesis and clinical manifestation

 

  Polycystic Kidney Disease

  Polycystic kidney disease is a genetic disorder that inhereted heterogenously and causes kidney failure.The most common form of polycystic kidney disease is the autosomal dominant(ADPKD).On yhe other hand the autosomal ressesive form of polycystic kidney disease(ARPKD) is seen less than autosomal dominant polycystic kidney disease(ADPKD) and affects mostly pediatric population.

  Etiology and Pathogenesis

  In autosomal dominant polycystic kidney disease, there are epitheliel lined cyts in kidney.Cysts occurs only in 5% of tubules but when they grow extensively, normal tubules are also affected.Autosomal polycystic kidney disease(ADPKD) is caused by some mutations in human genes that called PKD1 and PKD2.They are also called as polycystin-1(PC1) and polycystin-2(PC2).

  Clinical Manifatations

  Autosomal dominant polycystic kidney(ADPKD) disease affects both kidneys.We can also detect focal cysts in kidney especially below aged 30 years.In autosomal dominant polycystic kidney disease(ADPKD) kidneys enlarge fourtimes in length and 20 time in weight.The patients are mostly asymtomatic and they are usually diagnosed incidentally after fourth to fifth decade.The symptoms are usually hypertension, abdominal masses, back or flank pain.These symptoms seen 60% of autosomal polycyctic kidney disease(ADPKD) patients ıf symptoms appearent.Gross hematuria can also be seen in 40% of patients if cyst rupture occurs.Proteinuria may become a symptom.Infection is the second most common death of autosomal polycystic kidney disease and we usually detact gram-negative bacteria.When infection occurs, patients have fever and flank pain.Kidney stones may occur in aproximately 20% of autosomal dominant polycystic kidney disease(ADPKD) patients.More than half of them are uric acid stones others are calcium oxalate stones.Renal cell carcinome is rarely seen in ADPKD sompared to general population.We use CT scan and MRI to distinguish a malignancy from a cyst formation.

 Picture showing an autosomal dominant polycystic kidney disease.

The kidney has been cut open.

ACUTE ASTHMA TREATMENT

  ACUTE ASTHMA TREATMENT

   Acute asthma treatment can be done by internists and family doctors.Although drug therapy has been placed there are also several non pharmalogical therapies.The drug therapy can be divided into two cathegories. One is called bronchodilatator therapy, the other one is controller therapy.Bronchodilator therapies give rapid treatment that give rapid relief of symptoms.On the other hand controller therapies control the symptoms for longterm.

                       

   Bronchodilator Therapies

   Bronchodilators rapidly relief the symptoms of asthma. Bronchodilators act on smooth muscles of airway and reverse the bronchoconstriction which means rapid relief of airways.There are effective bronchodilators in treatment.B2-adrenergic agonists, anticholinergics, and theophylline are the treatment choices.Of these, B2-adrenergic agonists are the most effective choice of asthma treament.

   B2-Agonists

   There are many B2-adrenergic receptors through airways.B2- agonists target B2-adrenergic receptors.It gives rapid relief of symptoms by reversing bronchoconstriction.In clinical pratice B2 agonists is given by inhalation.Because inhalation treatment reduce the certain side effects such as arithymia.

   Short acting B2 agonists(SABA) such as albuterol and terbutaline give rapid relief of symptoms in 3-6 hours. They can be given by either nebulizer or via a metered dose inhaler(MDI).

                                                       

    Long acting B2 agonists(LABA) are salmeterol and formoterol which both have duration over 12 hours and they are given twice per day.On the other hand other long acting B2 agonists such as indacaterol, olodaterol, and vilanterol are given once a day.Long acting B2 agonists(LABA) are together with inhaler corticosteroids(ICS).Because unlike inhaler cortisiteroids, long acting B2 agonist(LABA) can not reduce underlying inflammation.

    B2 agonists have several side effects.Most of them are muscle tremors an palpitaitons.Because B2 agonist are given by inhalation, side effects are not usually become a problem.

   Anticholinergics

   Anticholinergics effect on muscarinic receptors which are widely dispersed through airways.Anticholinergics shut downs muscarinic receptors.So it is called muscarinic receptors antagonists.Ipratropium bromide which is an anticholinergic, prevent mucus secretion and bronchoconstriction by anti muscarinic receptor effect.Long acting muscarinic antagonists(LAMA) can be given with inhaler corticosteroids + short acting b2 agonists if they can not reduce bronchoconstriction and inflamation.

   Theophylline

   Thephyline has used as an oral bronchodilatator.Theophylline is not used for several years because of common side effects.Also inhaled B2 agonist are much more effective than theophylline for asthma treatment.In clinical practice, theophylline can be give once or twice a day by slow release preperation.Theophylline can be used in severe asthma patients as an additional bronchodilatator.

  Best wishes…

  Dr. Rıdvan…

Definition and Causes of Hypertension

 

  HYPERTENSİON

  Hypertension is characterizied by elevation in blood pressure. There are 2 types of hypertesion. One with no diagnostic reason called essential hypertesion.Of all hypertesion cases 80-95% is called essential hypertension.The other type is called as secondary hypertesion.This type has a causative effect.Before aged 30 or after aged 55 with the new onset of hypertesion we should look for a secondary cause another say secondary hypertesion.

  SECONDARY HYPERTESİON

  RENAL ARTERY STENOSİS

  Renal artery stenosis can be caused by either atherosclerosis or fibromuscular dysplasia.Athero sclerosis is mostly seen in older men, on the other hand fibromuscular dysplasia is mostly seen in young women.Renin angiotensin aldosteron system activation cause the hypertesion.

  RENAL PARENCHYMAL DİSEASE

  There will be an abormality in urine anlayses.This cause some certain blood incredients increase such as creatinin.

  COARCTATİON OF AORTA

  Coarctation is usually seen in aorta at the level of left subclavian artery. This causes delayed and diminished pulse in femoral artery. Doppler echocardiography shows the region of coarctation.

                              

  PHEOCHROMACYTOMA

  Pheochromacytoma is a tumor that causes the realese of catecholamine.It is usually seen in adrenal medulla or extraadrenal paraganglion tissue.The symptoms of pheochromacytoma are palpitation headache and diaphoresis. Other symptoms are      glucose intolerance, wight lost and orthostatic hypotension.Pheochromacytome may also seen on bladder wall. We may see elevated plasma metaphanephrine level or urinary catecholamine in 24 hours urine sample.İf we see that than we order CT or MRI to localize the tumor.

  HYPERALDOSTERONİSM

  Hyperaldosteronism is caused by tumors that are aldosterone secreting adenoma or bilateral adrenal hyperplasia.Hypokalemia(low blood potassium level) is seen on disease progression.Refractory hypertension is present in hyperaldosteronism.

  OTHER CAUSES

  -Obstructive sleep apnea syndrome(OSAS)

  -Oral contraceptives

  -Thyroid disease

  -Cushing’s syndrome

  -Hypercalcemia

  -Acromegaly

  APROACH TO THE PATİENT

  However most patients show no symptoms, in severe cases headache, dizziness and blured vision may seen.

  We should have a detailed patients history fort the diagnosis of secondary hypertasion.

  Like other diseases we should make a ohysical examination for certain patterns.Measureing blood pressure in both arms and both legs(aortic coarcitation). Cushingoid appearance, thyromegaly, abdominal bruits(renal artery stenosis), and delayed femoral pulse(aorta coarctation) are the signs of secondary hypertesion.

  Labaratory:Serume creatinine, BUN, urinalysis, serum K+ measures, CXR, ECG, CBC, glucose, lipid levels, calcium, uric acid, TSH.

  Specific workup:Cushingoid syndrome; dexamethasone suppression test, renal artery stenosis; captopiril radionuclide scan, renal duplex USG, magnetic resonance angiography, pheochromacytoma; 24 h urine collection for cathecolamines, metanephrines and vanillymandelic acid(VMA), primary hyperaldosteronism; deppresed plasma renin activity and hypersecretion of aldosterone,   renalparenchymal disease.

  Best wishes...

  Dr. Rıdvan

WHAT IS DIABETES MELLITUS AND WHİCH TYPE OF DIABETES YOU HAVE

WHAT İS DIABETES MELLITUS?   

Dr. Rıdvan /  June 9 2021 

  Diabetes mellitus is a disorder that commonly seen among the people.It leads the blood sugar rising that called as hyperglycemia.The etiology of diabetes mellitus are genetic and enviromental factors.The cause  decides the patient's proggress and the treatment choice which we will talk about later.

  Diabetes mellitus is the most common cause of end stage renal disease that bladder takes irreversibly damage.It can also cause amputation(surgical removal of the body part), cardiovascular disease and blindness.

  

   WHİCH TYPE OF DIABETES YOU HAVE

   There are two main types of diabetes mellitus.They are called type 1 and type 2 diabetes mellitus.Type 1 diabetes mellitus is caused by autoimmunity(a disorder that body cell react against normal body components).In that type pancreas's beta cells take damage.Because beta cells produce insuline, type 1 diabetes mellitus reduces the insuline level and that causes hyperglycemia.On the otherhand type 2 diabetes mellitus characterizied by insuline resistance, impared insuline secretion and increased hepatic glucose secretion.

    In both type 1 and 2 diabetes mellitus there is a progression by time.Althoug type 1 diabetes mellitus mostly seen in young ages, 5 to 10% of patients develop after age 30.And although type 2 diabetes mellitus mostly seen in old ages, today people is diagnosed more frequnetly in young ages, especially obese adolescents.

    Gestational diabetes mellitus can be seen in pregnant woman.We can see it as type 2 DM in pregnancy.Because it is caused by insuline resistance.It means that pancreas produces insuline but body does not respond to it.Although it is transient, patients who have GDM can devoloped DM in next 10-20 years.The risk is estimated as 35-60%.So The American Diabetes Association(ADA) recomend them lifelong screening at least every 3 years.

  We will talk about the other topics of diabetes mellitus later.Stay healthy...

  Dr. Rıdvan