A very rare familial disorder characterized by
incompletely or abnormally developed cortical tubules. Similar renal
pathology is seen in infants born of women who had taken
angiotensin-converting enzyme (ACE) inhibitors during pregnancy. Prognosis
Primitive Renal Tubule Syndrome.
First described by J.E. Allanson in 1992.
Autosomal recessive inheritance.
Probably related to ischemia or hypoperfusion of
renal parenchyma with resultant hypoxia affecting those organs requiring a
high oxygen tension for normal growth. Another postulation attributed to a
lack of angiotensin II growth stimulation, as is found in ACE-inhibitor
Nephromegaly with characteristic histological appearance
whereby the cortical tubules lack normal features of the proximal or distal
convolutions. The tubules are short and straight, primitive, and reminiscent
of collecting tubules. The glomeruli are crowded with the medullary pyramids
smaller than usual. Late second-trimester sonographic demonstration of
oligohydramnios, with structurally normal kidneys, should suggest the
diagnosis. Associated skull abnormalities may help in suggesting the
Gestations are complicated by late-onset
oligohydramnios. Liveborns are anuric and develop renal failure. A number of
the affected children have skull abnormalities (calvarial hypoplasia,
microcephaly, underdeveloped cranial bones, or widely patent fontanelles)
with characteristic Potter facies. Hypotonia may occur; respiratory failure,
Assess intravascular volume and
electrolyte imbalances, especially potassium. Correct all anomalies
preoperatively. Systematic review of cardiovascular and respiratory status
(clinical, ECG, chest radiographs, echocardiography, arterial blood gas analysis).
Investigations: CBC (note severity of anemia), clotting times, urea, creatinine, and
electrolytes, liver function tests. The effects of sedative drugs for
premedication are unpredictable because of the changes in plasma protein
levels and the altered pH.
Fluid balance and electrolytes should be
monitored carefully. The use of a regional anesthetic technique may be
considered, provided there is no coagulopathy or thrombocytopenia.
Postoperative ventilatory support can be necessary in case of respiratory
Use barbiturates in lower doses and
with caution because the free drug percentage is increased as a consequence
of hypoalbuminemia. Avoid suxamethonium if the serum potassium levels >4
mmol/L or if there is presence or suspicion of peripheral neuropathy. Atracurium, cis-atracurium, and mivacurium are preferred for neuromuscular blockade because of their
rapid elimination that is independent of renal and hepatic functions.
Remifentanil would probably also be preferred for the same reason. Morphine and
pethidine should be used with caution, because their metabolites tend to
accumulate. Aminoglycosides should be used with great caution
and doses adapted to renal function.
Allanson Panzar McLeod Syndrome (Primitive Renal Tubule Syndrome;
Renovascular Dysgenesis Syndrome): An autosomal recessive medical condition characterized
by renotubular dysgenesis, Potter facies, pulmonary hypoplasia and oligohydramnios. It is
usually lethal at birth. Pathological studies reveal the absence, or abnormal form of,
proximal convoluted tubules resembling collecting tubules.
Allanson JE, Hunter AGW, Mettler GS, et al: Renal tubular dysgenesis: A
not uncommon autosomal recessive syndrome: A review. Am J ...