Medullary cystic kidney disease


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Medullary cystic kidney disease

Renal system

Renal and ureteral disorders

Renal agenesis

Horseshoe kidney

Potter sequence











Renal tubular acidosis

Minimal change disease

Diabetic nephropathy

Focal segmental glomerulosclerosis (NORD)


Membranous nephropathy

Lupus nephritis

Membranoproliferative glomerulonephritis

Poststreptococcal glomerulonephritis

Goodpasture syndrome

Rapidly progressive glomerulonephritis

IgA nephropathy (NORD)

Lupus nephritis

Alport syndrome

Kidney stones


Acute pyelonephritis

Chronic pyelonephritis

Prerenal azotemia

Renal azotemia

Acute tubular necrosis

Postrenal azotemia

Renal papillary necrosis

Renal cortical necrosis

Chronic kidney disease

Polycystic kidney disease

Multicystic dysplastic kidney

Medullary cystic kidney disease

Medullary sponge kidney

Renal artery stenosis

Renal cell carcinoma


Nephroblastoma (Wilms tumor)

WAGR syndrome

Beckwith-Wiedemann syndrome

Bladder and urethral disorders

Posterior urethral valves

Hypospadias and epispadias

Vesicoureteral reflux

Bladder exstrophy

Urinary incontinence

Neurogenic bladder

Lower urinary tract infection

Transitional cell carcinoma

Non-urothelial bladder cancers

Renal system pathology review

Congenital renal disorders: Pathology review

Renal tubular defects: Pathology review

Renal tubular acidosis: Pathology review

Acid-base disturbances: Pathology review

Electrolyte disturbances: Pathology review

Renal failure: Pathology review

Nephrotic syndromes: Pathology review

Nephritic syndromes: Pathology review

Urinary incontinence: Pathology review

Urinary tract infections: Pathology review

Kidney stones: Pathology review

Renal and urinary tract masses: Pathology review


Medullary cystic kidney disease


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High Yield Notes

11 pages


Medullary cystic kidney disease

of complete

External References

First Aid






Medullary cystic kidney disease p. 628


Content Reviewers

Rishi Desai, MD, MPH


Tanner Marshall, MS

Nephronophthisis, which means “nephron wasting”, and medullary cystic kidney disease, which refers to fluid-filled sacs in the medulla, are two kidney diseases that share some similar features: they’re both genetic, they both affect the nephrons, and both can lead to kidney cysts and renal failure over time.

To help understand these diseases, let’s first take a zoomed-in look at a nephron and talk about how it works. Alright so the outer layer of the kidney is called the cortex, and this is where the glomeruli live, which is where blood is initially filtered into the nephron, as well as the proximal convoluted tubule, where some of the filtered substances are reabsorbed back into the body.

The filtered substances, or filtrate, that don’t get reabsorbed then moves down through the medulla via the descending and then ascending parts of the loop of Henle.

The filtrate then goes back to the cortex briefly in the distal convoluted tubule, and then returns back to the medulla in the collecting duct.

Zooming back out a bit, the collecting ducts in each region of the kidney - called a renal pyramid, converge on the renal papilla, which dumps fully formed urine into a minor calyx.

From there the urine goes into the major calyx, and soon after, it goes into the ureter and the bladder.

And finally, zooming back in, surrounding each nephron’s tubule is the tubular interstitium, a hypertonic environment optimized to help resorb water and other substances from the tubules.

Alright so in nephronophthisis, which presents in childhood, the tubules atrophy and the interstitium gets infiltrated by macrophages and becomes fibrotic.

Inflammation of the tubules and the interstitium qualifies nephronophthisis as a tubulointerstitial nephritis, but don’t confuse this with nephritic syndrome, which is where red blood cells and protein escape in the urine as a result of damage to the glomerulus.


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  3. "Pathophysiology of Disease: An Introduction to Clinical Medicine 8E" McGraw-Hill Education / Medical (2018)
  4. "CURRENT Medical Diagnosis and Treatment 2020" McGraw-Hill Education / Medical (2019)
  5. "Association between congenital defects in papillary outgrowth and functional obstruction in Crim1 mutant mice" The Journal of Pathology (2012)
  6. "Neonatal vascularization and oxygen tension regulate appropriate perinatal renal medulla/papilla maturation" The Journal of Pathology (2016)
  7. "Ultrasound to address medullary sponge kidney: a retrospective study" BMC Nephrology (2020)

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