Polycystic Kidney Disease in the First Year of Life

Cole, Barbara R.; Conley, Susan B.; Stapleton, F. Bruder

doi:10.1016/s0022-5347(17)42827-8

Cited by 22 publications

(45 citation statements)

References 27 publications

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“…These reports have found the 1-year death rate for ARPKD varying widely from 9%-81%, with the majority of studies falling between 9%-13%. 7,28,37,[102][103][104] The most common causes of death include respiratory failure or sepsis. In a recently described cohort of 31 patients with ARPKD followed between 1990 and 2000, 55% of patients were found to present in the neonatal period, with the most common …”

Section: Arpkdmentioning

confidence: 99%

“…7 Pulmonary complications are extremely common in the newborn period, and have been found to occur in anywhere from 13%-75% of ARPKD patients, with ventilatory support being temporarily required in 40% of cases. 7,86,102,105 The requirement of neonatal ventilatory support has been thought to be a negative prognostic factor, as it often implies more severe pulmonary hypoplasia and is associated with greater renal complications. 7,106 Patients diagnosed as neonates who do not experience significant respiratory complications may have a better prognosis, with studies finding that renal clearances often improve in the first two years of life in these patients, later stabilizing before declining in adolescence.…”

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confidence: 99%

“…7,106 Patients diagnosed as neonates who do not experience significant respiratory complications may have a better prognosis, with studies finding that renal clearances often improve in the first two years of life in these patients, later stabilizing before declining in adolescence. 7,102 Some suggest that another important prognostic factor in ARPKD is the age of disease onset, with a number of studies having shown that the later the age of diagnosis, the better the long term survival. 102,103,107,108 The data for this is conflicting, however.…”

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confidence: 99%

“…7,102 Some suggest that another important prognostic factor in ARPKD is the age of disease onset, with a number of studies having shown that the later the age of diagnosis, the better the long term survival. 102,103,107,108 The data for this is conflicting, however. 7,103,105 Overall, survival of ARPKD patients at 9 years of age has been found to be as high as 80%.…”

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confidence: 99%

“…7 Patients with ARPKD frequently experience congenital hepatic fibrosis, which has been found to be present in 11%-47% of patients, with patients that have delayed presentations often having more significant liver disease. 7,27,28,37,[102][103][104] The most common complication of hepatic fibrosis is portal hypertension, seen in 20% to 60% of patients, resulting in esophageal varices and bleeding in as many as 20%-36% of cases. 37,102,107 Nonetheless, portal hypertension rarely affects hepatic function, and its complications are uncommonly fatal in ARPKD.…”

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Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment

Halvorson

Bremmer²,

Jacobs³

2010

IJNRD

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Both autosomal dominant and recessive polycystic kidney disease are conditions with severe associated morbidity and mortality. Recent advances in the understanding of the genetic and molecular pathogenesis of both ADPKD and ARPKD have resulted in new, targeted therapies designed to disrupt cell signaling pathways responsible for the abnormal cell proliferation, dedifferentiation, apoptosis, and fluid secretion characteristic of the disease. Herein we review the current understanding of the pathophysiology of these conditions, as well as the current treatments derived from our understanding of the mechanisms of these diseases.

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Section: Arpkdmentioning

confidence: 99%

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confidence: 99%

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confidence: 99%

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confidence: 99%

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confidence: 99%

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Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment

Halvorson

Bremmer²,

Jacobs³

2010

IJNRD

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Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology

et al. 1998

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Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases and has a high infant mortality. Prenatal diagnosis using fetal sonography can be unreliable, especially in early pregnancy. The ARPKD locus has been mapped to proximal chromosome 6p allowing haplotype-based prenatal diagnosis in "at-risk" families. From December 1994 to March 1997, we received 258 inquiries regarding prenatal evaluation and we have completed analyses in 212 families. To date, 65 prenatal analyses have been performed in 57 families. In the majority of the requesting families (45/57), the index children are deceased and their DNA was extracted from paraffin-embedded tissue. Eighteen fetuses were homozygous for the disease-associated haplotypes. In 12 of these fetuses, pathoanatomical examination demonstrated typical ARPKD changes consisting of dilated collecting ducts and the characteristic hepatic ductal plate malformation. These changes were detected in two fetuses as early as 13 weeks gestational age. These cases represent the earliest demonstration of ARPKD-associated histopathology reported to date. One high risk fetus was carried to term and turned out to be unaffected. However, the diagnosis of ARPKD remained doubtful in the index patient. Forty-three fetuses were either heterozygous or homozygous for a nondisease-associated haplotype and all infants born were phenotypically unaffected at birth. In four cases, a recombination event occurred between the flanking markers and no genotypic prediction was possible. Three of these pregnancies were terminated and necropsy of the fetuses confirmed ARPKD, while one fetus was carried to term and showed no abnormalities at birth. These results show that haplotype-based prenatal testing is feasible and reliable in pregnancies "at risk" for ARPKD. An absolute prerequisite for these studies is an accurate diagnosis of ARPKD in previously affected sib(s).

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Renal dysgenesis in a monozygotic twin: Association with in utero exposure to indomethacin

Restaino

Kaplan

et al. 1991

Am. J. Med. Genet.

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We report oligohydramnios and renal dysgenesis in one of identical twins, which might have resulted from in utero exposure to early, prolonged high-dose indomethacin. The proposita was the second of twin girls born at 36 weeks of gestation. Pregnancy was complicated initially by polyhydramnios in both amniotic sacs and premature uterine contractions. After administration of indomethacin and terbutaline from 16 to 30 weeks' gestation, serial prenatal ultrasound examinations ultimately showed oligohydramnios in twin B and resolution of polyhydramnios in twin A. On day 5 twin B developed hematuria, hypertension, renal failure, hyponatremia, hyperkalemia, metabolic acidosis, sodium wasting and severe, transient inability to excrete potassium. Renal sonography showed enlarged, hyperechoic kidneys with almost no corticomedullary differentiation. Renal biopsy revealed immature glomeruli, dilated Bowman's spaces, dilated tubules, and interstitial fibrosis. The liver was histologically normal. Indomethacin may induce oligohydramnios and transient renal insufficiency in humans and renal dysgenesis in fetal monkeys; it might have induced the abnormalities in this patient.

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Polycystic Kidney Disease in the First Year of Life

Cited by 22 publications

References 27 publications

Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment

Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology

Renal dysgenesis in a monozygotic twin: Association with in utero exposure to indomethacin

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