Lysosomal acid lipase deficiency
A lysosomal enzyme deficiency spanning a clinical spectrum; enzyme replacement is available. წაიკითხეთ სრულად → news.gmj.ge
Mesothelioma
Aggressive malignancy of mesothelial lining, strongly linked to asbestos exposure. წაიკითხეთ სრულად → news.gmj.ge
Lymphatic filariasis
Mosquito-borne nematode infection causing lymphedema and elephantiasis. წაიკითხეთ სრულად → news.gmj.ge
Limb-girdle muscular dystrophy
Heterogeneous dystrophies affecting shoulder and pelvic girdle muscles; many genetic subtypes. წაიკითხეთ სრულად → news.gmj.ge
Loeys-Dietz syndrome
An aggressive heritable connective-tissue and vascular disorder; blood-pressure-lowering therapy and close vascular surveillance with timely surgery are central. წაიკითხეთ სრულად…
Long QT syndrome
Inherited repolarization disorder with risk of torsades de pointes and sudden death. წაიკითხეთ სრულად → news.gmj.ge
Lymphangioleiomyomatosis
Cystic lung disease in women from abnormal smooth-muscle proliferation, associated with TSC. წაიკითხეთ სრულად → news.gmj.ge
Leprosy
Chronic mycobacterial infection of skin and peripheral nerves causing disfigurement and disability if untreated. წაიკითხეთ სრულად → news.gmj.ge
Lennox-Gastaut syndrome
A severe childhood epilepsy syndrome; several antiseizure medicines reduce drop attacks and other seizures. წაიკითხეთ სრულად → news.gmj.ge
Langerhans cell histiocytosis
Clonal proliferation of Langerhans-type cells with single- or multi-system disease. წაიკითხეთ სრულად → news.gmj.ge
Leber congenital amaurosis
Severe inherited retinal dystrophy causing blindness/severe visual impairment from infancy. წაიკითხეთ სრულად → news.gmj.ge
Leber hereditary optic neuropathy
Mitochondrial optic neuropathy causing acute/subacute bilateral central vision loss, mainly young men. წაიკითხეთ სრულად → news.gmj.ge
Leishmaniasis
Sandfly-borne parasitic disease with cutaneous, mucocutaneous and fatal visceral forms. წაიკითხეთ სრულად → news.gmj.ge
Kennedy disease
X-linked lower motor neuron disorder with bulbar/limb weakness and androgen insensitivity features. წაიკითხეთ სრულად → news.gmj.ge
Kallmann syndrome
Hypogonadotropic hypogonadism with impaired smell from defective GnRH neuron migration. წაიკითხეთ სრულად → news.gmj.ge
Kawasaki disease
Acute medium-vessel vasculitis of childhood with risk of coronary artery aneurysms. წაიკითხეთ სრულად → news.gmj.ge
Klinefelter syndrome
Extra X chromosome in males causing hypogonadism and infertility. წაიკითხეთ სრულად → news.gmj.ge
Inclusion body myositis
Commonest acquired myopathy after 50 with finger-flexor and quadriceps weakness; often immunotherapy-refractory. წაიკითხეთ სრულად → news.gmj.ge
Immune thrombocytopenia
Autoimmune platelet destruction causing isolated thrombocytopenia and bleeding. წაიკითხეთ სრულად → news.gmj.ge
IgA nephropathy
Glomerular disease from IgA immune-complex deposition; variable progression to renal failure. წაიკითხეთ სრულად → news.gmj.ge
IgG4-related disease
Fibroinflammatory disease with tumefactive lesions, IgG4-positive plasma cells and elevated serum IgG4. წაიკითხეთ სრულად → news.gmj.ge
Hypophosphatasia
An inborn error of bone mineralisation; enzyme replacement is available for paediatric-onset disease. წაიკითხეთ სრულად → news.gmj.ge
Ichthyosis
Heritable disorders of cornification with persistent scaling skin. წაიკითხეთ სრულად → news.gmj.ge
Hypertrophic cardiomyopathy
The most common inherited cardiac disorder; management spans beta-blockade, cardiac myosin inhibition and ICDs for high-risk patients. წაიკითხეთ სრულად →…
Idiopathic pulmonary fibrosis
A progressive fibrotic lung disease; antifibrotic therapy slows decline in lung function. წაიკითხეთ სრულად → news.gmj.ge
Hereditary hemorrhagic telangiectasia
Vascular dysplasia with mucocutaneous telangiectases and arteriovenous malformations. წაიკითხეთ სრულად → news.gmj.ge
Hyper-IgE syndrome
Primary immunodeficiency with very high IgE, eczema, recurrent skin/lung infections and connective-tissue features. წაიკითხეთ სრულად → news.gmj.ge
Hidradenitis suppurativa
Chronic inflammatory disease of apocrine-bearing skin with painful nodules, abscesses and sinus tracts. წაიკითხეთ სრულად → news.gmj.ge
Hairy cell leukemia
Indolent B-cell leukemia with characteristic hairy lymphocytes and pancytopenia. წაიკითხეთ სრულად → news.gmj.ge
Hereditary transthyretin amyloidosis
Misfolded transthyretin deposits causing progressive polyneuropathy and/or cardiomyopathy. წაიკითხეთ სრულად → news.gmj.ge
Guillain-Barré syndrome
Acute immune-mediated polyradiculoneuropathy with ascending weakness, often post-infection. წაიკითხეთ სრულად → news.gmj.ge
Granulomatosis with polyangiitis
An ANCA-associated vasculitis; remission induction and maintenance combine immunosuppression with newer targeted agents. წაიკითხეთ სრულად → news.gmj.ge
Facioscapulohumeral muscular dystrophy
Dystrophy with facial, scapular and humeral weakness, often asymmetric, descending progression. წაიკითხეთ სრულად → news.gmj.ge
Friedreich ataxia
The most common inherited ataxia; a disease-modifying therapy is now approved alongside supportive care. წაიკითხეთ სრულად → news.gmj.ge
Creutzfeldt-Jakob disease
Rapidly progressive prion neurodegeneration with dementia, myoclonus and ataxia. წაიკითხეთ სრულად → news.gmj.ge
Dravet syndrome
A severe developmental and epileptic encephalopathy; several targeted antiseizure medicines are approved and certain sodium-channel blockers are avoided. წაიკითხეთ სრულად…
Galactosemia
An inborn error of galactose metabolism detected on newborn screening; lifelong galactose restriction prevents acute crises. წაიკითხეთ სრულად → news.gmj.ge
Glycogen storage disease type I
Glucose-6-phosphatase deficiency with severe fasting hypoglycemia, hepatomegaly and lactic acidosis. წაიკითხეთ სრულად → news.gmj.ge
Cystinosis
A lysosomal transport defect; cysteamine depletes intracellular cystine and slows organ damage. წაიკითხეთ სრულად → news.gmj.ge
Congenital adrenal hyperplasia
Cortisol synthesis defect with androgen excess and salt-wasting in classic forms. წაიკითხეთ სრულად → news.gmj.ge
Cushing disease
Chronic cortisol excess from an ACTH-secreting pituitary tumor. წაიკითხეთ სრულად → news.gmj.ge
Fanconi anemia
Inherited bone marrow failure with congenital anomalies and high cancer risk. წაიკითხეთ სრულად → news.gmj.ge
Diamond-Blackfan anemia
Inherited pure red cell aplasia with congenital anomalies. წაიკითხეთ სრულად → news.gmj.ge
Glucose-6-phosphate dehydrogenase deficiency
Enzyme deficiency causing oxidative hemolysis triggered by drugs, infection or fava beans. წაიკითხეთ სრულად → news.gmj.ge
Common variable immunodeficiency
Commonest symptomatic primary antibody deficiency with low immunoglobulins and recurrent infections. წაიკითხეთ სრულად → news.gmj.ge
DiGeorge syndrome
Microdeletion disorder with thymic hypoplasia, cardiac defects, hypocalcemia and facial features. წაიკითხეთ სრულად → news.gmj.ge
Ehlers-Danlos syndromes
Heritable connective-tissue disorders with joint hypermobility, skin hyperextensibility and tissue fragility; vascular type carries arterial rupture risk. წაიკითხეთ სრულად →…
Fibrodysplasia ossificans progressiva
Progressive heterotopic ossification of soft tissue, with characteristic great-toe malformation. წაიკითხეთ სრულად → news.gmj.ge
Fibrous dysplasia
Replacement of bone by fibrous tissue, isolated or with endocrinopathy and skin pigmentation. წაიკითხეთ სრულად → news.gmj.ge
Epidermolysis bullosa
Group of disorders with extreme skin fragility and blistering from minor trauma; severe types cause scarring and SCC risk. წაიკითხეთ…