Acrorenal syndrome associated with visual defect

Salloum, Abdullah A. Al; Rasheed, Soud Al; Husain, Majid; Mugeiren, M. M. Al; Rikabi, A. S. Al; Sohaibani, Mohammad O. Al

doi:10.1007/s004670050211

Cited by 6 publications

(2 citation statements)

References 6 publications

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“…The most frequent occurring defects involved in this “syndrome”, as evidenced by case reports, are LDs (in most cases atypical split hand/split foot), a variety of renal and urogenital defects, and an array of minor congenital anomalies [Curran and Curran, 1972; Salmon and Wakefield, 1977; Halal et al, 1980; Miltenyi et al, 1984; Saito et al, 1989; Zeier et al, 1989; Houlston and MacDermot, 1992; Miltenyi et al, 1992; Akl, 1994; Kovacs et al, 1997]. Other patients had not only a variety of renal and limb defects, but also other major congenital anomalies [Gehler and Grosse, 1972; Siegler et al, 1980; Freire‐Maia et al, 1982; Pinheiro et al, 1983; Al Salloum et al, 1996; Buttiens and Fryns, 1987; Lurie et al, 1991; Pierquin et al, 1991]. Despite these documented cases, a well‐circumscribed definition of the “acrorenal syndrome” has never been developed.…”

Section: Introductionmentioning

confidence: 99%

Abatacept in the treatment of patients with psoriatic arthritis: Results of a six‐month, multicenter, randomized, double‐blind, placebo‐controlled, phase II trial

Mease¹,

Genovese²,

Gladstein³

et al. 2011

Arthritis & Rheumatism

268

166

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Objective. To assess the safety and efficacy of abatacept, a selective T cell costimulation modulator, in patients with psoriatic arthritis (PsA).Methods. In this 6-month, multicenter, randomized, double-blind, placebo-controlled, phase II study, 170 PsA patients with a psoriasis target lesion (TL) >2 cm who had previously taken disease-modifying antirheumatic drugs (DMARDs), including anti-tumor necrosis factor (anti-TNF) agents, were randomized (1:1: 1:1) to receive placebo or abatacept at doses of 3 mg/kg, 10 mg/kg, or 30/10 mg/kg (2 initial doses of 30 mg/kg, followed by 10 mg/kg) on days 1, 15, and 29 and then once every 28 days thereafter. The primary end point was the American College of Rheumatology 20% criteria for improvement (ACR20 response) on day 169. Other key end points were magnetic resonance imaging (MRI) scores for joint erosion, osteitis, and synovitis, scores on the Health Assessment Questionnaire (HAQ) and the Short Form-36 (SF-36) health survey, the investigator's global assessment of psoriasis, the TL score, and the Psoriasis Area and Severity Index (PASI) score.Results. Proportions of patients achieving an ACR20 response were 19%, 33%, 48%, and 42% in the placebo, the abatacept 3 mg/kg, the abatacept 10 mg/kg, and the abatacept 30/10 mg/kg groups, respectively. Compared with placebo, improvements were significantly higher for the abatacept 10 mg/kg (P ‫؍‬ 0.006) and 30/10 mg/kg (P ‫؍‬ 0.022) groups, but not for 3 mg/kg group (P ‫؍‬ 0.121). All abatacept regimens resulted in improved MRI, HAQ, and SF-36 scores, with 10 mg/kg showing the greatest improvements. Improvements in the TL and PASI scores were observed in all abatacept arms; a response according to the investigator's global assessment was seen only with 3 mg/kg of abatacept. The safety profiles were similar among the treatment arms.Conclusion. The results of this study suggest that 10 mg/kg of abatacept, the approved dosage for rheumatoid arthritis and juvenile idiopathic arthritis, may be an effective treatment option for PsA.Psoriatic arthritis (PsA) is a chronic inflammatory disease characterized by both arthritis and psoriasis ClinicalTrials.gov identifier: NCT00534313.

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Section: Introductionmentioning

confidence: 99%

Abatacept in the treatment of patients with psoriatic arthritis: Results of a six‐month, multicenter, randomized, double‐blind, placebo‐controlled, phase II trial

Mease¹,

Genovese²,

Gladstein³

et al. 2011

Arthritis & Rheumatism

268

166

View full text Add to dashboard Cite

show abstract

“…The most frequent occurring defects involved in this ''syndrome'', as evidenced by case reports, are LDs (in most cases atypical split hand/split foot), a variety of renal and urogenital defects, and an array of minor congenital anomalies [Curran and Curran, 1972;Salmon and Wakefield, 1977;Halal et al, 1980;Miltenyi et al, 1984;Saito et al, 1989;Zeier et al, 1989;Houlston and MacDermot, 1992;Miltenyi et al, 1992;Akl, 1994;Kovacs et al, 1997]. Other patients had not only a variety of renal and limb defects, but also other major congenital anomalies [Gehler and Grosse, 1972;Siegler et al, 1980;Freire-Maia et al, 1982;Pinheiro et al, 1983;Al Salloum et al, 1996;Buttiens and Fryns, 1987;Lurie et al, 1991;Pierquin et al, 1991]. Despite these documented cases, a well-circumscribed definition of the ''acrorenal syndrome'' has never been developed.…”

Section: Introductionmentioning

confidence: 97%

Renal defects and limb deficiencies in 197 infants: Is it possible to define the “acrorenal syndrome”?

Kroes

Olney

Rosano³

et al. 2004

American J of Med Genetics Pt A

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Dieker and Opitz in 1969 described the simultaneous occurrence of limb deficiencies (LDs) and renal anomalies (RAs) in three patients. Curran and Curran introduced in 1972 the term "acrorenal syndrome." Since then, the term "acrorenal syndrome" is used occasionally, but a well-circumscribed definition has never been established. On the other hand, the concept of an acrorenal polytopic developmental field defect was postulated by Opitz and others to explain the association between RAs and LDs. We undertook this study to investigate whether this acrorenal "syndrome" could be identified in a large group of cases with congenital RAs and a limb deficiency. Eleven birth defect registries that are part of the International Clearinghouse for Birth Defects Monitoring (i.e., registries of ICBDMS in Finland, France [Paris and Strasbourg], Israel, Italy [IPIMC and Emilia Romagna], Mexico, Northern Netherlands, South America, Spain, and the United States [Atlanta]) provided data on 815 infants who had a LD and at least one other major congenital anomaly. These 815 cases were ascertained among 5,163,958 births. We selected the 197 cases who had both a limb deficiency and a renal or urinary tract anomaly. In about 50% of these cases a diagnosis or a recognized phenotype was reported, with chromosomal aberrations and VACTERL being most frequent. In the group with no diagnosis or recognized phenotype (95 cases), we looked for (a) clustering of specific types of LDs and RAs, and (b) for clustering of associated anomalies, in order to find evidence for and be able to define better the term "acrorenal syndrome." Our data suggest that an association exists between LDs and RAs, possibly explained by the concept of the acrorenal polytopic developmental field defect. However, our dataset does not yield evidence for the existence of one distinct "syndrome," defined as a pattern of causally related multiple anomalies. Therefore, use of the term "acrorenal syndrome" should be avoided.

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Oligonephronia and Wolf‐Hirschhorn syndrome: A further observation

Gatto

Ferrara

Leoni

et al. 2017

American J of Med Genetics Pt A

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Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by a partial deletion of chromosome 4 (4p16.3p16.2). We describe a case of a male 9 years old children with WHS proteinuria and hypertension. Laboratory data showed creatinine 1.05 mg/dl, GFR 65.9 ml/min/1.73 m , cholesterol 280 mg/dl, triglyceride 125 mg/dl with electrolytes in the normal range. Urine collection showed protein 2.72 g/L with a urine protein/creatinine ratio (U /U ratio) of 4.2 and diuresis of 1,100 ml. Renal ultrasound showed reduced kidney dimensions with diffusely hyperechogenic cortex and poorly visualized pyramids. Renal biopsy showed oligonephronia with focal segmental glomerulosclerosis associated with initial tubulointerstitial sclerotic atrophy. The child began therapy with Angiotensin-converting enzyme inhibitors (ACE-inhibitors) to reduce proteinuria and progression of chronic kidney disease. In the literature the anomalies of number of glomeruli oligonephronia and oligomeganephronia (OMN) are described in two forms, one without any associated anomalies, sporadic, and solitary and the other with one or more anomalies. Our review of the literature shows that the pathogenesis of this anomaly is unknown but the role of chromosome 4 is very relevant. Many cases of OMN are associated with anomalies on this chromosome, in the literature cases series we observed this association in 14/48 cases (29.2%) and in 7 of these 14 cases with WHS. Our case and the review of literature demonstrate how periodic urinalysis and renal ultrasound monitoring is recommended in patients affected by WHS and the renal biopsy must be performed when there is the onset of proteinuria.

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Acrorenal syndrome associated with visual defect

Cited by 6 publications

References 6 publications

Abatacept in the treatment of patients with psoriatic arthritis: Results of a six‐month, multicenter, randomized, double‐blind, placebo‐controlled, phase II trial

Abatacept in the treatment of patients with psoriatic arthritis: Results of a six‐month, multicenter, randomized, double‐blind, placebo‐controlled, phase II trial

Renal defects and limb deficiencies in 197 infants: Is it possible to define the “acrorenal syndrome”?

Oligonephronia and Wolf‐Hirschhorn syndrome: A further observation

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