Inherited Renal tubular dysgenesis (RTD) is a severe fatal disorder characterised by the absence or poor development of renal proximal tubules, early onset and persistent anuria leading to oligohydramnios and the Potter sequence and hypocalvaria. Early death occurs from pulmonary hypoplasia, anuria and refractory arterial hypotension. Inherited RTD is genetically heterogeneous and linked to mutations in the genes encoding the major components of the renin-angiotensin system (RAS): angiotensinogen, renin, angiotensin-converting enzyme or angiotensin II receptor type 1.
So far, only nine unrelated patients out of 79 cases survived to date1 , suggesting possible genotype-phenotype correlations. To date, no clear correlation has been demonstrated between the specific ACE mutations and the phenotype, not enabling prognostic evaluation based on the type of mutation.
We describe four consanguineous Bedouin family members diagnosed with RTD that survived the neonatal period .Genetic analysis revealed homozygous nontruncating mutation in exon 17 of ACE (c.2570G>A).
