Familial hypoplastic glomerulocystic kidney disease: A definite entity with dominant inheritance

Kaplan, Bernard S.; Gordon, Isky; Pincott, J. R.; Barratt, T. M.

doi:10.1002/ajmg.1320340423

Cited by 46 publications

(17 citation statements)

References 24 publications

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“…However, a pure form con sisting just of glomerular cysts without tubu lar cysts and without distortion of the rest of the renal architecture has been reported with an autosomal dominant inheritance. Long term follow-up will usually reveal renal im pairment developing in adulthood [23,24], Glomerular cysts can also be observed in ob structive uropathy.…”

Section: Cystic Massesmentioning

confidence: 99%

Renal Masses in the Neonate

Pinto¹,

Guignard²

1995

Neonatology

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Abdominal masses are frequent in newborn infants, two thirds being renal in origin. After thorough palpation of the abdomen, cystic masses must be differentiated from solid masses by ultrasound examination. The common benign cystic masses include hydronephrosis, multicystic dysplasia, polycystic disease, and adrenal hemorrhage. Solid masses include renal vein thrombosis, a renal ectopic kidney, or horseshoe kidneys. Occasionally, a renal mass may be malignant and correspond to congenital mesoblastic nephroma, Wilms’ tumor, or fetal hamartoma. Whatever the nature of the renal mass, early intervention may save the kidney or the patient.

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Section: Cystic Massesmentioning

confidence: 99%

Renal Masses in the Neonate

Pinto¹,

Guignard²

1995

Neonatology

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“…However, the histological picture in our case showed proper tubular development, with no expansion of interstitium and identifiable proximal tubules. Gross pathological analysis of kidney specimens with GCKD display in some cases a severe medullary dysplasia, with abnormally differentiated medullary pyramids [1,21]. Bowman's space is the structure dilated in this entity, similar to the lesion seen in ureteral obstruction [22].…”

Section: Discussionmentioning

confidence: 94%

“…Sellers and Richie [23] postulated that an intrarenal medullary obstruction to urinary flow in the third trimester of pregnancy is the main reason for the development of this lesion. Whether this abnormality is due to an abnormal genetic development of kidney in its late phase or is due to exposure to toxins or drugs, such as phenacetin [21] is unknown. In our case, the medullary tissue available for assessment in biopsy, did not show evidence for dysplasia or fibrosis, but it may have been too small for true assessment of the entire inner medulla.…”

Section: Discussionmentioning

confidence: 99%

Oligohydramnion, renal failure and no pulmonary hypoplasia in glomerulocystic kidney disease

Landau¹,

Shalev²,

Shulman

et al. 2000

Pediatric Nephrology

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Two newborns with glomerulocystic kidney disease manifesting as late onset oligohydramnion and neonatal anuria, yet without severe respiratory distress, are presented. They had a similar perinatal course and associated clinical manifestations. No associated congenital or inherited malformation syndrome could be defined. Both infants' parents were first degree cousins and belonged to the same small Bedouin tribe, and neither they nor the infants' siblings had polycystic kidneys or renal insufficiency, pointing to either a possible genetic etiology or a common external toxic exposure.

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“…Recent studies have revealed mutations in the gene encoding HNF-1β to be associated with the hypoplastic subtype of familial glomerulocystic kidney disease (GCKD) in two previously described families [15,17,18].…”

Section: Introductionmentioning

confidence: 99%

“…The Italian siblings and their phenotypically similar mother were followed and all developed diabetes [15]. In 1989, familial hypoplastic GCKD was confirmed as a distinct, dominantly transmitted entity by the report of a mother and son with the same condition [18]. During follow-up, the mother developed diabetes and impaired glucose tolerance was diagnosed in the son [15].…”

Section: Introductionmentioning

confidence: 99%

De novo HNF-1β gene mutation in familial hypoplastic glomerulocystic kidney disease

Mache

Preisegger

Kopp

et al. 2002

Pediatric Nephrology

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Mutations in the gene encoding the transcription factor hepatocyte nuclear factor (HNF)-1 beta are associated with maturity-onset diabetes of the young (type V), non-diabetic renal disease, and occasionally genital malformations in females. Recently, familial hypoplastic glomerulocystic kidney disease (GCKD) has been added to the clinical spectrum of HNF-1 beta gene mutations. Familial hypoplastic GCKD is a rare, dominantly inherited disorder characterized by small kidneys containing glomerular cysts, abnormal pelvicalyceal anatomy, and chronic renal failure. A family with hypoplastic GCKD occurring in the father and the daughter was screened for mutations in the HNF-1 beta gene. The sequence of exon 4 of the HNF-1 beta gene revealed a C insertion at codon 334 resulting in a frameshift mutation (P334fsinsC) in two family members. The P334fsinsC allele co-segregated with hypoplastic GCKD in the family. Oral glucose tolerance testing was normal in the 11-year-old girl. In her 38-year-old father, impaired glucose tolerance was detected. These studies provide further evidence that familial hypoplastic GCKD is associated with HNF-1 beta gene mutations. HNF-1 beta gene mutation screening may prove useful in patients with small cystic kidneys and chronic renal failure, in whom a definite renal diagnosis could otherwise only be established by renal biopsy.

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Familial hypoplastic glomerulocystic kidney disease: A definite entity with dominant inheritance

Cited by 46 publications

References 24 publications

Renal Masses in the Neonate

Renal Masses in the Neonate

Oligohydramnion, renal failure and no pulmonary hypoplasia in glomerulocystic kidney disease

De novo HNF-1β gene mutation in familial hypoplastic glomerulocystic kidney disease

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