Medullary cystic kidney disease

Medullary cystic kidney disease 

Updated: 10/04/2018

© Jun Wang, MD, PhD

General features
  • Autosomal dominant
  • AKA autosomal dominant interstitial kidney disease (ADIKD) or autosomal dominant tubulointerstitial kidney disease (ADTKD)
  • No extrarenal involvement
  • Three subtypes
Uromodulin kidney disease (UKD)
ADTKD DUE TO MUTATIONS IN THE REN GENE (ADTKD-REN)
Mucin-1 kidney disease (MKD)
Pathogenesis
  • Loop of Henle deficiency due to uromodulin mutation (UKD)
  • Accumulation of prerenin in tubules due to renin mutation (ADTKD-REN)
  • Abnormal intracellular localization of mucin-1 in renal tubules (MKD)
Clinical features
  • Family history of kidney disease and gout
  • Adult-onset progressive renal failure
  • Early onset gout (teenage years)
Pathological findings


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Contents

Pathology notes Jun Wang, MD, PhD 1. General information Frequently discussed syndromes Terms of dermatology Terms of hematology 2. Primary immunodeficiency disorders 3. Hemodynamic abnormalities Shock Thrombosis and embolism Bleeding disorders 4.  Benign blood cell disorders Anemia Benign white cell disorders 5. Hematopoietic neoplasms Lymphoid neoplasms Myeloid neoplasms Histiocytic neoplasms: Langerhans cell histiocytosis 6. Cardiovascular system Pulmonary hypertension Cardiovascular system tumors 7. Respiratory tract tumors 8. Gastrointestinal tract Congenital disorders Infectious gastroenteritis Oral cavity Esophagus Stomach Intestinal tumors Salivary glands Exocrine pancreas and gallbladder 9. Urinary system Kidney masses Lower urinary tract 10. Male reproductive system 11. Female genital tract 12. Breast 13. Endocrine organs Pituitary gland Adrenal gland Thyroid gland Parathyroid gland Endocrine pancreas M
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Anemia

Anemia Updated: 07/13/2024 © Jun Wang, MD, PhD   General features Decrease in red cell mass Hemoglobin: Levels of hemoglobin in a specific volume of whole blood Hematocrit: Fraction of whole blood composed of red blood cells Red cell count: Quantity of red cell in a specific volume of whole blood Three major groups based on RBC sizes Microcytic Normocytic Macrocytic Three major causes Blood loss: acute or chronic Increased red cell destruction: hemolysis Reduced production: marrow failure due to genetic abnormality or nutritional deficiency Etiology Genetic abnormality Hemoglobinopathies RBC cytoskeletal abomorlities Enzyme abnormalities Fanconi anemia Nutritional deficiencies: iron, VB12, folate, general malnutrition Physical etiologies: trauma, burns, frostbite, prosthetic valves, etc Chronic diseases: chronic infections, neoplasia, autoimmune disorders, kidney or liver diseases, etc Infectious diseases: hepatitis, sepsis , malaria, etc
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Lymphoid neoplasms

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