Inherited renal disease
Many renal abnormalities are
inherited. Recognition of these is important, not only in terms of diagnosis
and treatment of the patient, but also for screening and genetic counselling
for the whole family.
·
New
therapies may become available as gene therapy is researched.
·
Ethical
considerations are very important in this group in terms of family screening
and counselling.
·
Databases
such as Online Mendelian Inheritance in Man (OMIN) provide comprehensive lists.
Below are a few of the more common conditions.
Polycystic kidney disease (ADPKD).
Commonest inherited renal disease (1/400 to 1/1000), which usually only
manifests in adult life, but cysts can be seen on US scan in children.
Multi-organ involvement (intracranial aneurysms, liver and pancreatic cysts,
mitral valve prolapse), abdominal mass, haematuria, pain (rare presentation in
neonatal period with abdom-inal masses and/or
high or low BP, renal impairment).
·
Skin: ‘ash-leaf’ macule; adenoma
sebaceum; shagreen patch.
·
Neurological: seizures.
·
Cardiac: rhabdomyoma.
·
Renal: cysts; angiomyolipomas; high or
low BP; renal impairment.
·
Neurofibromatosis: neurofibroma, renal artery
stenosis; therefore, BP should be
monitored.
· Branchio-oto-renal syndrome
Hearing loss, branchial arch defects, renal anomalies.
Polycystic kidney disease (ARPKD)
·
Incidence
1:20 000 to 1:40,000.
·
Oligohydramnios
and large echogenic kidneys.
·
Fusiform
dilatation of collecting tubules.
·
Prognosis
depends on degree of pulmonary involvement.
·
This
usually presents at an earlier age than ADPKD and progresses to renal failure
in a shorter time.
·
Liver
involvement leads to portal hypertension in later life
·
Bardet–Biedl syndrome: obesity, polydactyly, mental
retardation, retinitis pigmentosa,
hypogenitalism, renal anomalies commonly found.
·
Cystinosis (Fanconi’s syndrome): excess storage of cystine due to
defect in transport system of cystine
out of cell. Accumulates in various organs (cornea, thyroid, brain, leading to
growth failure)—eventual renal failure.
·
Nephronophthisis: polyuria, polydipsia, tubulopathy
and childhood onset renal failure.
·
Primary hyperoxaluria: (renal calculi).
·
Cystinuria: recurrent calculi.
·Alport’s
syndrome: sensorineural
deafness with progressive nephritis.
·Nephrogenic diabetes insipidus.
·Fabry’s
disease: deficiency of
alpha-galactosidase A; now treatable.
·VATER
association: vertebral,
anal, tracheo-oesophageal, radial/renal; renal problems include agenesis,
ectopy, or obstruction.
·CHARGE
association:
Coloboma, heart defects, choanal
atresia, retarded growth, genital anomalies, ear abnormalities (renal anomalies
include dysplasia, agenesis, and ectopy).
·Turner’s
(XO): horseshoe or
duplex kidneys.
·William’s
syndrome: hypertensive,
hypercalcaemia.
·Bartter’s:
metabolic alkalosis, low K+,
high aldosterone with normal BP.
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