learning medicine

DIABETIC NEPHROPATHY DIABETIC NEPHROPATHY refers to chronic loss of kidney function occurring in those with diabeic nephropathy DIABETIC MELLITUS →→ Nephropathy (if HbA2C > 7% develop nephropathy) Type - 1 → 5 years Type - 2 → 20 years - bilateral enlarged kidney SCREENING: Albumin Excretion rate Urine Albumin creatinine ratio SPOT URINE SAMPLE: Urinary Albumin creatinine ratio albumin(mg)/urinary creatinine(gm) - 30 - 300mg/gm (moderately increased albuminuria - serum creatinine may be normal (rises later after 60% kidney damage) - most specific test - kidney function test KIDNEY BIOPSY: Nodular glomerulosclerosis - kimmelstiel wilson change(most specific) Diffuse glomerulosclerosis - most common kidney biopsy finding Armani ebstein changes: PCT Damage to DCT leads to development of Type 4 renal tubular acidosis  - thus ENaC( epithelial sodium channel) become defective - resulting in aldosterone resistance - impai...

CILIOPATHIES OLD NAME: CHRONIC TUBULOINTERSTITIAL DISORDERS cilia in kidney located in: Proximal convoluted tubule (PCT) Distal convoluted tubule (DCT) Collecting duct But not in the loop of henle because its primary function is reabsorption of water. - Motile cilia → Lungs, Embryonic development (affected in kartagener syndrome) - Non motile cilia → collecting ducts of kidney , Retinal pigmentary epithelium(RPE) ciliopathy autosomal dominant polycystic kidney disease(ADPKD) autosomal recessive polycystic kidney disease(ARPKD) Medullary sponge kidney ADTKD (Tubulointerstital kidney disease) aka medullary cystic kidney disease (MCKD) Nephronophthisis Medullary sponge kidney disease Sporadic Developmental malformation of cilia cystic dilatation of collecting duct incidental diagnosis - 50-60 years clinical presentation Renal stones - calcium oxalate (recurrent stones) Renal UTI/Pyelonephritis/ tenderness at costovertebral junction Hematuria...

POLYCYSTIC KIDNEY DISEASE It is a genetic disorder, resulting in the development and growth of multiple cysts within the kidney Autosomal dominant polycystic kidney disease (ADPKD) - 75% Chances of expression in next generation Autosomal recessive polycystic kidney disease (ARPKD) - 25% Chances of expression in next generation chromosome 16 PKD1 gene defect - polycystin 1 protein affected chromosome 4 PKD2 gene defect - polycystin 2 protein affected Multiple cysts present both in medulla and cortex Renomegaly and progressive development of cyst occurs Development of bleeding in cyst can occur and which can cause flank pain CLINICAL FEATURE: Usual age of presentation = 30 -45 years Flank pain (due to stone formation, bleeding in cyst ) UTI(urinary tract infection): higher (chance of pyelonephritis) stones incidence higher : Urate stones can develop Renal cell cancer (RCC) : Bilateral, multicentric GFR decreased ( due to cyst) renin con...

LIDDLE SYNDROME It is a rare hereditary disorder involving increased activity of the epithelial sodium channel (ENaC) Autosomal dominant FEATURES: Gain salt and water leads to HYPERTENSION Hypokalemic alkalosis HYPERTENSION → Feedback RAAS: ↓Renin,↓Aldosterone (low renin hypertension) Dehydration: absent TREATMENT: Amiloride

BARTTER SYNDROME Autosomal recessive Defect in the "Na-k-2cl cotransporter , cl channel and ROMK transporter" in loop of Henle  These channels are responsible for voltage gradient which causes ca++ reabsorption Hence defect in these channels leads to ca2+ wasting cl channel present in the inner ear are also defective ⇁ sensorineural deafness  CLINICAL FEATURES: Salt wasting/polyuria polyhydramnios SN deafness failure of thrive Dehydration: sunken anteriofrontal /delayed skin pinch diaper change frequency ↑ GFR ↓, RAAS:↑Aldosterone - loss of k+ and H+ Hypokalemic alkalosis k+ channel defect : hypokalemia voltage gradient ↓ which helps in calcium resorption calcium wasting: nephrocalcinosis renal rickets: delayed dentition, wide open anteriofrontal, short stature WORKUP: Serum electrolyte: sodium decreased and potassium decreased Urinary osmolality: decreased 24 hours urinary chloride: increased 24 hours urinary calcium: i...

GITELMAN SYNDROME Autosomal recessive Defect in "Na ๋- Cl￣ cotransporter and TRPM6 transporter" in DCT(distal convoluted tubules) Hallmark feature: salt wasting and polyuria CLINICAL FEATURE: Antenatal H/O: Polyhydramnios failure to thrive Dehydration:sunken AF(anteriofrontal) /delayed skin pinched Diaper change frequency ↑ GFR↓,Renin↑,Aldosterone↑ sluggish MORO/poor cry - k+↓ metabolic alkalosis Mg+ wasting : release of PTH↓ - Hypocalcemia(tetany) WORKUP: Serum electrolyte: Na+↓,k+↓ Urine osmolality: Low , decrease 24 hour urinary chloride: ↑ (IOC) Serum Mg+: ↓↓ TREATMENT: No definitive treatment Clinical profile of Thiazide diuretic is similar to Gitelman syndrome

METABOLIC ALKALOSIS It is a metabolic condition in which the PH of tissue is elevated beyond the normal range (7.35-7.45) In chronic vomiting, loss of water + HCL(Hypochloremia) ↓ Dehydration ↓ GFR decreased and the activation of RAAS(renin angiotensin aldosterone system) ↓  increase aldosterone ↓ Hypokalemic hypochloremic metabolic alkalosis CAUSES: Congenital hypertropic pyloric stenosis Ca stomach Healed peptic ulcer disease TREATMENT: Normal saline(0.9%) - so it is saline/chloride responsive metabolic alkalosis but if still PH > 7.55 in spite of fluids give NH4CL (Ammonium chloride)  HYPOKALEMIC METABOLIC ALKALOSIS - CHLORIDE NON RESPONSIVE METABOLIC ALKALOSIS CAUSES :  Nephrotic syndrome protein losing enteropathy eg: celiac sprue CHF Cirrhosis TREATMENT: Spironolactone and restrict salt intake