44

INHERITED TUBULAR DISORDERSS

Common features of inherited tubular disorders

Poluuria:
most important function of tubules is to concentrate
urine
Dysfunction of tubules con lead to
excess
urine.
output from the Kidney
Polyuria is deBned as doity urine output 7aL/m° body
surface area.
Polydipsia: Excessive thirst.
Failure to thrive: Due to impaired absorption of

glucose and nutrients from the tubule.

Disorders Site of delect oetect

Bartter's Ascending limb of loop Na ' ac co-transporter
sundrome ofHenle mimics Furosemide.

Gitelman Distal convolutedtubule Na'-c cotransporter.

mimics Thiazides.
Sundrome DCT)
Gain of function mutation
Liddle sundrome Collecting duct.
in gene that codes for
ENac (epithelial Sodium
channed Inereased
activitu of the chanmel
Inheritance:
Autosomal recessive ertter and. iteagR GHndromes.
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Autosomal dominant : Liddle Sundrome.

Proxmol Bouman's
corvoluted capsule
tubule

oescendir
vrb of loop o Dsta convolatecd
Herle tubule
ollectung cuct
pscending9
Loop of Henle nb of loop
of Henle
 44 Inherited
Disorders
ubyave Feedbaek

Distal convoluted tubule

NaCI cotransporter
Thia2ide duretics
Gitenan

edomeruluss-
eouman's

P
capsule Pscending
Loop of Henle
Cthick segment)
Nahac
Proximal
convoluted Cotransporter
Loop diuretie
tubule
.Bartter

Ascending
LOop of Henle
(thin segment)
Collecting duct

eNac
Descendin9 .Amiloride + Liddle
loop o Hene

00:05:35
Bartter syndrome
Inheritance: Autosomal recessive disorder
Onset: Intancu
Loss of function:

Ascending limb
Basal
Lumen loop of Henle
cell
C
Na cr channel Also expressed in
cochlea

Sensorineural hearing loss in

CaaType IV Bartter syndrome.
Ca
loss ot aradient
for Ca
absorption.

Lost

5e9a1e40aa8ded58031759f0

.Na-K-acco-transporter.
a. Renal outer membrane Potassium Romr) channel.

3. C channel (Gene Bartin)

Urinary Tract

Consequences
. Loss of Na, K', c in urine.

Dehydration/ Vintroavascular volume.

5e9a1e40aa Bded58031759f0

Stimulates Renin release from Kidney

Activates Renin anqiotensin-Aldosterone|

mechanism.

Na absorption in

collecting duet
secretion K*lost in

urine

Hypokalemic hypochloremic metabolic

alkalosis.

a. Loss ot Ca" in urineHupercalciuria Stones

00:12:03
Gitelman syndrome
Onset:Late childhood. OCT Basal
Lumen
Na
Loss of function of:
.Na'Cl cotransporter.
a. Transient receptor mgt
potential m-o (TRPmb)
Responsible tor absorption
LOst
of maonesium.

Consequences:
I. Na', lost in urine.

Decrease in intravascular volume.

Rening angiotensin
aldosterone system activated.

rinn a ud n hMarrow 6 0 . 2022

 Disorders
Na' absorption
Kexcretion

Hypokalemic hupochloremic metabolic alkalosis

a. Loss of maqnesium Huypomagnesemia

Bartter sundrome eitelman sundrome
Hupokalemic hypochlo- Hypokalemic hupochlo-
remic metabolie alkalosis. remic metabolic alkalosis.
elood pressure normal. elood pressure normal
Hupercalciuria. Hypomagnesemia.
Insome cases Inereased
level ot prostaglandins in
Kidneu.

Treatment of Bartter and Gitelman sundrome

Correction of electrolute imbalance.
bartter sundrome:Indomethacin (Prostaqlandin
inhibitor may be efective.

Liddle syndrome 00:17:25

Inheritance : Autosomal dominant.

mutation: SCNlIB and sCNNIG qene.

s a i n of function mutation : epithelial sodium channel

(Elac) in collecting duct.

Consequence: Inereased absorption of sodium into
5e9a1e40aa8ded58031759f0
blood

Hypertension loss in urine

Aldosterone suppressed Hypokalemic alkalosis

Also Knouwn as pseudo-hyperaldosteronism

Hypertension.
Hypokalemic alkalosis.
LOw aldosterone levels.
Kidney and 44 Leave Feedback
Urinary Tract

Treatment: Amiloride (ENac elocker)

Inherited tubular disorders

Poluuria
Failure to thrive.
Hypokalemic alkalosis
5e9a1e40aa8ded58031759f0

Bartter sundrome Gitelman syndrome Liddle sundrome

Normal blood Normal blood Increased blood
pressure pressure pressure
Hupercalciuria Hypomagnesemia.