Congenital Pathology of the Kidney Pathology Study Guide

Congenital Pathology of the Kidney Pathology Video

Congenital pathology of the kidney are disorders that effect the kidneys at birth.

Congenital pathology of the kidney includes:

Congenital horseshoe kidney
Renal agenesis
Dysplastic kidney
Polycystic kidney disease
Medullary cystic kidney disease

Congenital Horseshoe Kidney

Horseshoe kidney is a type of anomaly where the kidneys are conjoined.

Horseshoe kidneys are the most prevalent congenital renal abnormality.

The connection is usually at the lower pole.

Horseshoe kidney can become stuck on the inferior mesenteric artery root as it ascends from the pelvis to the abdomen, causing the kidney to be improperly placed in the lower abdomen.

Horseshoe kidney is associated with Turner syndrome (monosomy X).

Congenital Horseshoe Kidney. Axial CT image of the abdomen showing a horseshoe kidney. Hellerhoff. Not altered. CC BY-SA 3.0
Congenital Pathology of the Kidney. Intravenous pyelogram showing horseshoe kidney. © Nevit Dilmen. Not altered. CC BY-SA 3.0
(A) Neonate with trisomy 18 and overlapping of the fingers associated with fingernail hypoplasia. (B) Kidneys from the same patient with nonobstructive renal dysplasia. (C) H&E-stained renal section with 2× lens, original magnification. Observe a small island of cartilage and disorganized renal parenchyma. (D) Another patient with trisomy 18 and horseshoe kidney. Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT): Rodriguez MM - Fetal and pediatric pathology (2014). Not altered. CC.
Renal ultrasound of CHD patients demonstrates a spectrum of renal abnormalities. Intrarenal collecting system dilation (arrows) ranging from mild (a) to moderate (b), to severe (c) was observed. (d–f) Cystic dysplastic abnormalities including an isolated cystic lesion in the upper pole of the kidney (d, arrow), multiple cystic lesions throughout the periphery of the kidney parenchyma (e, arrow), and cystic dysplastic kidney (f, arrow) were observed. Other renal abnormalities including horseshoe kidney (g) and duplicated collecting system depicted with renal ultrasound (h) and voiding cystourethrogram (i) were observed. Genetic link between renal birth defects and congenital heart disease: San Agustin JT, Klena N, Granath K, Panigrahy A, Stewart E, Devine W, Strittmatter L, Jonassen JA, Liu X, Lo CW, Pazour GJ - Nature communications (2016). Not altered. CC.

Renal Agenesis

Renal agenesis is an absent kidney.

In renal agenesis, kidney formation is absent.

The absence may be unilateral or bilateral.

The existing kidney becomes hypertrophic as a result of unilateral agenesis, and this raises the likelihood of renal failure later in life.

Renal agenesis is associated with Potter sequence.

Potter sequence includes the following:

Bilateral renal agenesis
Oligohydramnios with lung hypoplasia
Flat face with low set ears
Developmental abnormalities of the extremities

Findings in the large intestine and kidney in the present patient. Total-colon HSCR (a) and right renal agenesis (b) were present. On histologic examination of the kidney, very few glomeruli (0.96/μm2) were present, and glomeruli and renal tubules were enlarged (c Periodic acid-Schiff stain, x400 and d Masson trichrome stain, x100). Heterozygous p.S811F RET gene mutation associated with renal agenesis, oligomeganephronia, and total colonic aganglionosis: a case report: BMC Nephrology. Not altered. CC.

Dysplastic Kidney

Dysplastic kidney is a congenital renal parenchymal abnormality that is not inherited and is characterized by cysts and abnormal tissue.

Dysplastic kidney is typically unilateral.

If bilateral, dysplastic kidney must be separated from inherited polycystic kidney disease.

Dysplastic Kidney. Diagram of normal kidney with a multicystic dysplastic kidney on the right of the diagram Colin Kurtz - Not altered. CC BY-SA 4.0
Dysplastic Kidney. Ultrasound Scan -Vesicoureteral reflux © Nevit Dilmen. Not altered. CC BY-SA 3.0
Bifid ureters. Dysplastic multiplex kidneys. (A,B) Gross anatomy of post-natal and embryonic multiplex kidneys with bilateral bifid ureters. (C,D) Histological analysis of dysplastic kidneys demonstrating multiplex kidneys. The Good and Bad of β-Catenin in Kidney Development and Renal Dysplasia: Boivin FJ, Sarin S, Evans JC, Bridgewater D - Frontiers in cell and developmental biology (2015). Not Altered. CC.

Polycystic Kidney Disease (PKD)

Polycystic kidney disease (PKD) results in enlarged bilateral kidneys caused by an inherited abnormality with cysts in the renal cortex and medulla.

Potter sequence may be present in babies with the autosomal recessive variant, which manifests in infants as increasing renal failure and hypertension.

Polycystic kidney disease is associated with:

Hepatic cysts
Congenital hepatic fibrosis
Portal hypertension

Young people with the autosomal dominant variant typically experience:

Hypertension (caused by a rise in renin)
Hematuria
Progressive renal failure

In polycystic kidney disease, the cysts grow throughout time.

Polycystic kidney disease results from APKD1 or APKD2 gene mutations.

Polycystic Kidney Disease. This photograph reveals gross pathologic changes in a case of polycystic kidney disease. The two ureters are also visible. CDC/ Dr. Edwin P. Ewing, Jr. Not altered. Public Domain
Polycystic Kidney Disease. CT scan showing autosomal dominant polycystic kidney disease. - Not altered. CC BY-SA 3.0
Cyst infection in autosomal dominant polycystic kidney disease/autosomal-dominant polycystic liver disease (ADPLD) documented by several imaging methods (A-G) and histology (H-I). A-C, chronic kidney disease (CKD) stage 5patient with kidney cyst infection (KCI). A, T2-weighted magnetic resonance imaging (MRI). Infected cyst in the right kidney, axial plane(arrow). B, Diffusion-weighted MRI (DWMRI). Infected cyst in right kidney shows restriction to diffusion (arrow). C,positron-emission tomography/computed tomography (PET/CT). A high correlation between T2-weighted MRI (A), DWMRI (B) andPET/CT in a CKD stage 5 patient with KCI (arrow). D, PET/CT.Multiple infected liver cysts after cyst fenestration in an ADPLD patient(arrows). E, PET/CT. Bilateral renal infected cysts (arrows), coronal plane. Imaging analysis reveals increased cyst-lining 18FDGactivity and signal accumulation within the cyst (inferior pole, right kidney). F, PET/CT. Concomitant kidney and liver cyst infection(arrows), axial plane. G, CT scan. Left kidney with emphysematous cyst infection (arrows), axial plane. H, Smallliver cyst filled with neutrophils (arrows), small cysts containing no neutrophils (star), and large cysts lined by flat epithelium with no neutrophils (double stars; H&E, original magnification, 200×, bar: 100 μm).I, Myeloperoxidase immunohistochemistry showing a positive signal in neutrophils surrounding fibrous stroma (arrow) and within the cyst(original magnification, 400×, bar: 50 μm). Cyst infection in hospital-admitted autosomal dominant polycystic kidney disease patients is predominantly multifocal and associated with kidney and liver volume: Balbo BE, Sapienza MT, Ono CR, Jayanthi SK, Dettoni JB, Castro I, Onuchic LF - Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] (2014). Not altered. CC.
a–f Microscopic and macroscopic appearance of autosomal recessive polycystic kidney disease (ARPKD). a Considerably enlarged kidney with retained reniform configuration (patient passed away at the age of 2.5 months). b, c Cross-sections of ARPKD kidneys reveal the cortical extension of fusiform or cylindrical spaces arranged radially throughout the renal parenchyma from the medulla to the cortex. d, e Microscopic appearance of fusiform dilations of renal collecting ducts and distal tubuli lined by columnar or cuboidal epithelium. These dilated collecting ducts run perpendicular to the renal capsule. f Obligatory hepatobiliary changes in ARPKD subsumed as ductal plate malformation and characterized by dysgenesis of the hepatic portal triad with hyperplastic biliary ducts and congenital hepatic fibrosis. ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies: Bergmann C - Pediatric nephrology (Berlin, Germany) (2014). Not altered. CC.

Medullary Cystic Kidney Disease

Medullary cystic kidney disease results in cysts in the medullary collecting ducts of the kidneys.

Medullary cystic kidney disease is the result of an inherited (autosomal dominant) abnormality.

Renal failure worsens as the kidneys shrink as a result of parenchymal fibrosis.

Renal biopsy findings in case 2. (a) periodic acid-methenamine-silver (PAM) stain; original magnification 10×, (b) PAS stain original magnification 200×. Light microscopy images show tubular dilatation and atrophy. Cystic tubules show irregularities and thinning of the tubular epithelial cells. Of seven glomeruli, two are globally sclerotic, one is segmentally sclerotic, and two show glomerular cysts. The other glomeruli are intact. Rapidly Progressive Renal Dysfunction in Two Elderly Patients with Renal Enlargement and Medullary Cystic Kidney Disease-like Acute Tubulointerstitial Injury: Internal Medicine. Not altered. CC.
Medullary Cystic Kidney Disease. Intermediate magnification micrograph of focal segmental glomerulosclerosis, hilar variant. Focal segmental glomerulosclerosis is commonly abbreviated FSGS. PAS stain. Kidney biopsy. It presents as a nephrotic syndrome.Nephron. Not altered. CC BY-SA 3.0
Serial changes of abdominal computed tomography (CT) at (a) 2 years before admission, (b) 1 year before admission, and (c) at admission in case 2. There is no evidence of kidney enlargement at 2 or 1 year before admission; however, CT at admission shows kidney enlargement compared with the previous CT scans. Rapidly Progressive Renal Dysfunction in Two Elderly Patients with Renal Enlargement and Medullary Cystic Kidney Disease-like Acute Tubulointerstitial Injury: Internal Medicine. Not altered. CC.