Topic: Congenital and inherited renal diseases Faculty: Medicine Course: BSc RDT 2nd year Inherited renal diseases: - Alport syndrome Congenital renal diseases: - Renal agenesis - Ectopic kidney - Horseshoe kidney - Medullary sponge kidney - Polycystic kidney disease

1. Congenital and inherited
renal diseases
Dr. Salman Ansari
Kanachur Institute of Medical Sciences

2. Contents
● Inherited renal disorders
● Congenital renal disorders
- Renal agenesis
- Ectopic kidney
- Horseshoe kidney
- Medullary sponge kidney
- Polycystic kidney disease

3. Inherited disorders
Group of hereditary diseases involving the glomerulus
● Alport’s syndrome
● Fabry’s disease
● Nail-patella syndrome

4. Alport’s syndrome
- X-linked dominant disorder - affects males more
severely
- Mutation in alpha-5 chain of type IV collagen on X-
chromosome
- Syndrome consists of:
- sensorineural deafness
- Ophthalmic complications(lens dislocation,
posterior cataract and corneal dystrophy)
- Hereditary nephritis
- CKD in 2nd to 3rd decade

6. Fabry’s disease
Accumulation of glycosphingolipids in lysosomes of renal
glomerular, tubular, vascular and interstitial cells
Deficiency of enzyme ⍺-galactosidase A(⍺-gal A)

8. Congenital disorders

9. Congenital malformations
3 groups:
1. Abnormalities in amount of renal tissue: renal
hypoplasia
2. Anomalies of position, form and orientation:
ectopic kidney, horseshoe kidney
3. Anomalies of differentiation: cystic diseases of
kidney

10. Renal agenesis
Congenital absence of renal tissue affecting one
side(unilateral) or both sides(bilateral)
- Unilateral renal agenesis: fetus survives as remaining
kidney undergoes compensatory hypertrophy
- Bilateral renal agenesis(Potter syndrome): with Potter’s
facies(low set ears, flattened nose, recessed chin, and
infraorbital creases) - fetus dies within a few days of birth

12. POTTER syndrome - mnemonic: “P.O.T.T.E.R”

13. Ectopic kidney
- Also called pelvic kidney
- Occurs when kidney fails to begin or complete its ascent into its
final position in the lumbar region during embryogenesis
Clinical features:
- asymptomatic - can have UTI, calculi
Treatment:
- treat complications like UTI and calculi

15. Horseshoe kidney
- Common congenital anomaly in which there is fusion of
upper or lower poles of the kidneys
- Gives a horseshoe appearance to kidneys

17. Clinical features:
- usually asymptomatic
- Abdominal pain
- UTI
Investigations: USG, CT abdomen
Treatment:
- No treatment necessary
- Treat nephrolithiasis

18. Medullary diseases with cysts
2 types:
a) Medullary sponge kidney
b) nephronophthisis-medullary cystic disease
complex

19. a) Medullary sponge kidney
- Benign congenital abnormality with cystic dilatation of
renal medullary collecting ducts
- small cysts range in diameter from 1 to 8 millimeters and
give the kidney, when cut, the appearance of a sponge,
thus the name.
- Usually bilateral but can be unilateral
- Usually asymptomatic
- Higher incidence of UTI and calculi

21. b) Nephronophthisis-medullary cystic disease
complex
- Autosomal recessive disorder of kidney seen in children
- It is a ciliopathy - fibrosis and cyst formation in kidney
- Begins in childhood and progresses to CKD
Types: Infantile, Juvenile and Adult
Pathology: many small cysts at corticomedullary junction

22. Clinical features:
- Polyuria, polydipsia
- Progresses to end-stage renal disease over a period of
5-10 years
Treatment:
- treat high BP, electrolyte imbalances and anemia

23. Polycystic kidney disease

24. Polycystic kidney diseases
2 types
1. Autosomal recessive (childhood) polycystic kidney
disease(ARPKD)
2. Autosomal dominant (adult) polycystic kidney
disease(ADPKD)

25. Autosomal-dominant (adult) polycystic kidney disease
(ADPKD)
- Multiple thin-walled spherical cysts in cortex and
medulla of both kidneys, which cause destruction
of kidney tissue and lead to renal failure
- More common
- Mutation in PKD1 gene on chromosome 16 or
PKD2 on chromosome 4

27. Clinical features:
- Any age from second decade
- Acute flank or loin pain
- Hematuria
- Subarachnoid hemorrhage due to rupture of berry
aneurysm
- Hypertension
- Renal failure
- polycythemia
Investigations:
- USG abdomen
- MRI
- IVU drooping water lily sign

28. Treatment:
- Control hypertension
- Control pain
- Treat UTI
- Renal dialysis or transplantation
- Vaptans: vasopressin receptor antagonists

29. Questions:
LE: Discuss about congenital and inherited renal diseases
SE: Cystic diseases of kidney
SA: Alport syndrome
Name 3 inherited renal diseases

30. For notes, click here
or scan:
References:
● Ramadas Nayak - Exam Preparatory Manual for
Pathology
● Harsh Mohan - Textbook of Pathology
● StatPearls
● Archith Boloor - Prep Manual for Medicine
Questions:
salman.s.ansari92@gmail.com
For PPT, scan: