Congenital anomalies of kidney and hand: a review

Abstract

‘Acro-renal syndrome’ refers to co-occurrence of congenital renal and limb anomalies. The term acro-renal syndrome was coined by Curran et al. in 1972 though Dieker and Opitz were the first to report this phenomenon in three male patients in 1969. The common limb defects include oligodactyly, ectrodactyly, syndactyly or brachydactyly anomalies of the carpal and tarsal bones and the common renal anomalies observed are unilateral renal agenesis (URA), bilateral renal hypoplasia, ureteric hypoplasia, hydroureteronephrosis and duplication abnormalities. The acro-renal syndrome as originally described is rare, reported only in ∼20 patients in the international literature. We report a 23-year-old male patient with renal anomalies in the form of absent right kidney, left-sided vesicoureteric reflux (VUR) and skeletal anomalies viz short radius, absent first metacarpal ray in left hand and left undescended testis, consistent with Dieker's type acro-renal syndrome. Apart from the classical acro-renal syndrome, several anomalies of acro-renal patterns and the abnormal gene loci involved are described in the literature. This article is a comprehensive review of the development of kidneys, types of acro-renal syndromes, congenital anomalies of the kidney and urinary tract (CAKUT), syndromes associated with combined limb and renal anomalies, and anomalies associated with URA.

A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans

“…The pronephros is formed from intermediate mesoderm (where greb1l expression is observed in the zebrafish), and although it is considered a rudimentary structure that will be temporarily replaced by the mesonephros, studies have demonstrated that the pronephric duct is essential for promoting both mesonephric as well as metanephric (adult) kidney formation via key inductive signaling events (Saxen and Sariola 1987;Vize et al 1997;Natarajan et al 2013). Early on, the pronephric duct signals nearby intermediate mesoderm to form mesonephric tubules and these allow drainage into the mesonephric duct, the most caudal portion of the original pronephric duct.…”

Pollicization of Middle Finger in a Cleft Hand Associated with Acrorenal Syndrome

“…4 The common limb defects include oligodactyly, ectrodactyly, syndactyly, or brachydactyly anomalies of the carpal and tarsal bones, and the common renal anomalies observed are unilateral renal agenesis, bilateral renal hypoplasia, ureteric hypoplasia, hydroureteronephrosis, and duplication abnormalities. 1,14 In EEC syndrome, in addition to ectrodactyly, there can be hypertrichosis, hypopigmentation, teeth with hypodontia, enamel hypoplasia, microdontia, and cleft lip/palate. 15 Other associated minor anomalies include renal malformation, deafness, mental retardation, and choanal atresia.…”

Unusual Presentation of Duplex Kidneys: Ureteropelvic Junction Obstruction

“…Most are asymptomatic and are discovered incidentally and are seen as a normal functioning kidney with complete or partial duplication [11]. In symptomatic cases, obstruction can occur in the upper pole moiety and can be associated with anomalies like an ectopic ureter or ureterocele, while VUR is associated with the lower pole [12, 13].…”