Generalized pustular psoriasis
Severe systemic pustular variant of psoriasis with flares of widespread sterile pustules and fever. წაიკითხეთ სრულად → news.gmj.ge
Cutaneous T-cell lymphoma
Indolent-to-aggressive lymphoma of skin-homing T cells presenting with patches, plaques and tumors. წაიკითხეთ სრულად → news.gmj.ge
Ewing sarcoma
Aggressive bone/soft-tissue sarcoma of children and young adults. წაიკითხეთ სრულად → news.gmj.ge
Gastrointestinal stromal tumor
Mesenchymal tumor of the GI tract driven by KIT/PDGFRA mutations. წაიკითხეთ სრულად → news.gmj.ge
Diffuse intrinsic pontine glioma
Aggressive, inoperable pediatric brainstem glioma with very poor prognosis. წაიკითხეთ სრულად → news.gmj.ge
Erdheim-Chester disease
Rare non-Langerhans histiocytosis with multisystem xanthogranulomatous infiltration. წაიკითხეთ სრულად → news.gmj.ge
Focal segmental glomerulosclerosis
Pattern of glomerular scarring causing nephrotic-range proteinuria and progressive renal failure. წაიკითხეთ სრულად → news.gmj.ge
Gitelman syndrome
Salt-wasting distal tubulopathy with hypokalemia, hypomagnesemia and hypocalciuria. წაიკითხეთ სრულად → news.gmj.ge
Eosinophilic esophagitis
Chronic immune-mediated esophageal inflammation with eosinophilic infiltration. წაიკითხეთ სრულად → news.gmj.ge
Dermatomyositis
Idiopathic inflammatory myopathy with proximal weakness and characteristic skin findings. წაიკითხეთ სრულად → news.gmj.ge
Eosinophilic granulomatosis with polyangiitis
An eosinophil-rich ANCA-associated vasculitis; anti-IL-5 therapy reduces relapses and steroid burden. წაიკითხეთ სრულად → news.gmj.ge
Fragile X syndrome
An X-linked trinucleotide-repeat disorder; management is supportive with behavioural, educational and developmental therapies. წაიკითხეთ სრულად → news.gmj.ge
Cornelia de Lange syndrome
Multisystem developmental disorder with distinctive facies, growth restriction and limb anomalies. წაიკითხეთ სრულად → news.gmj.ge
Cri-du-chat syndrome
Deletion of short arm of chromosome 5 with characteristic high-pitched cat-like cry. წაიკითხეთ სრულად → news.gmj.ge
Echinococcosis
Tapeworm larval infection forming cysts, mainly in liver and lungs. წაიკითხეთ სრულად → news.gmj.ge
Becker muscular dystrophy
Milder allelic Duchenne variant; later onset, slower progression, cardiomyopathy may dominate. წაიკითხეთ სრულად → news.gmj.ge
Charcot-Marie-Tooth disease
A group of inherited peripheral neuropathies; management is supportive with orthoses, physiotherapy and foot care. წაიკითხეთ სრულად → news.gmj.ge
CADASIL
Inherited small-vessel arteriopathy causing migraine, recurrent subcortical strokes and vascular dementia. წაიკითხეთ სრულად → news.gmj.ge
Chronic inflammatory demyelinating polyneuropathy
A treatable immune-mediated neuropathy; immunoglobulin, steroids and a newer FcRn antagonist are used. წაიკითხეთ სრულად → news.gmj.ge
Alkaptonuria
Homogentisic acid accumulation causing dark urine, ochronosis and degenerative arthritis. წაიკითხეთ სრულად → news.gmj.ge
Methylmalonic acidemia
Organic acidemia with metabolic acidosis, hyperammonemia and risk of metabolic stroke. წაიკითხეთ სრულად → news.gmj.ge
Acute intermittent porphyria
A defect of haem biosynthesis causing acute attacks; treated acutely with hemin and prophylactically with RNAi therapy. წაიკითხეთ სრულად →…
Bardet-Biedl syndrome
Ciliopathy with obesity, retinal dystrophy, polydactyly, renal anomalies and hypogonadism. წაიკითხეთ სრულად → news.gmj.ge
Beta-thalassemia major
Severe reduction in beta-globin causing transfusion-dependent anemia and iron overload. წაიკითხეთ სრულად → news.gmj.ge
Aplastic anemia
Bone marrow failure with pancytopenia and hypocellular marrow. წაიკითხეთ სრულად → news.gmj.ge
Atypical hemolytic uremic syndrome
A complement-mediated thrombotic microangiopathy; terminal complement inhibition is the mainstay of treatment. წაიკითხეთ სრულად → news.gmj.ge
Chronic granulomatous disease
Phagocyte oxidative-burst defect with recurrent catalase-positive infections and granulomas. წაიკითხეთ სრულად → news.gmj.ge
Ataxia-telangiectasia
DNA-repair disorder with progressive ataxia, oculocutaneous telangiectasia, immunodeficiency and cancer risk. წაიკითხეთ სრულად → news.gmj.ge
Achondroplasia
An FGFR3-driven skeletal dysplasia; a targeted growth therapy is now approved alongside multidisciplinary care. წაიკითხეთ სრულად → news.gmj.ge
Cholangiocarcinoma
Malignancy of the bile ducts, often diagnosed late. წაიკითხეთ სრულად → news.gmj.ge
Adrenocortical carcinoma
Aggressive cancer of the adrenal cortex, often hormonally active. წაიკითხეთ სრულად → news.gmj.ge
Chordoma
Slow-growing malignancy arising from notochord remnants along the axial skeleton. წაიკითხეთ სრულად → news.gmj.ge
Castleman disease
Lymphoproliferative disorder ranging from unicentric to multicentric inflammatory disease. წაიკითხეთ სრულად → news.gmj.ge
Arrhythmogenic right ventricular cardiomyopathy
Fibrofatty replacement of myocardium causing ventricular arrhythmias and sudden death, especially in athletes. წაიკითხეთ სრულად → news.gmj.ge
Brugada syndrome
Inherited arrhythmia syndrome with characteristic ECG and risk of sudden death. წაიკითხეთ სრულად → news.gmj.ge
Alpha-1 antitrypsin deficiency
An underdiagnosed genetic cause of lung and liver disease; augmentation therapy is available for selected patients. წაიკითხეთ სრულად → news.gmj.ge
Autosomal dominant polycystic kidney disease
Commonest inherited kidney disease with progressive cyst growth and renal failure. წაიკითხეთ სრულად → news.gmj.ge
Alport syndrome
Type IV collagen disorder with progressive nephritis, hearing loss and ocular changes. წაიკითხეთ სრულად → news.gmj.ge
Bartter syndrome
Salt-wasting tubulopathy of the thick ascending limb with hypokalemic metabolic alkalosis. წაიკითხეთ სრულად → news.gmj.ge
Autoimmune hepatitis
Chronic immune-mediated liver inflammation responsive to immunosuppression. წაიკითხეთ სრულად → news.gmj.ge
Biliary atresia
Progressive obliteration of bile ducts in infancy, commonest cause of pediatric liver transplant. წაიკითხეთ სრულად → news.gmj.ge
Alagille syndrome
Multisystem disorder with bile-duct paucity, cardiac, skeletal, ocular and facial features. წაიკითხეთ სრულად → news.gmj.ge
Aniridia
Panocular disorder with iris hypoplasia and associated foveal, lens and corneal abnormalities. წაიკითხეთ სრულად → news.gmj.ge
Antiphospholipid syndrome
Autoimmune thrombophilia with recurrent thrombosis and pregnancy morbidity due to antiphospholipid antibodies. წაიკითხეთ სრულად → news.gmj.ge
Adult-onset Still disease
Systemic autoinflammatory disorder with quotidian fever, evanescent rash and arthritis. წაიკითხეთ სრულად → news.gmj.ge
Angelman syndrome
A genomic-imprinting disorder; management is supportive with seizure control and developmental therapies. წაიკითხეთ სრულად → news.gmj.ge
CHARGE syndrome
Multiple-anomaly disorder summarized by the CHARGE acronym. წაიკითხეთ სრულად → news.gmj.ge
Chagas disease
Vector-borne parasitic infection that can cause chronic cardiomyopathy and megaviscera. წაიკითხეთ სრულად → news.gmj.ge
პოლინოზი / ალერგია
სპეციალობა: ალერგოლოგიაICD-11: CA08English: Hay Fever / Allergy