Hereditary sclerosing glomerulopathy in the conorenal syndrome

doi:10.1016/0272-6386(95)90556-1

American Journal of Kidney Diseases

Volume 25, Issue 5, May 1995, Pages 792-797

https://doi.org/10.1016/0272-6386(95)90556-1 Get rights and content

Abstract

Kidney failure is recognized to occur in association with bone malformations, yet the renal disease often is incompletely characterized. In the syndrome of cone-shaped epiphyses of the phalanges and renal failure (conorenal syndrome), the kidney disease has been previously labeled “nephronophthisis” (now termed “medullary cystic disease”). We report two siblings with the conorenal syndrome in whom longitudinal clinical study has been possible and from whom kidney biopsy specimens were obtained prior to renal failure; their renal disease is incompatible with medullary cystic disease. The variable clinical course and nephropathology of this syndrome are characterized. These results call into question the association of medullary cystic disease of the kidney with other syndromes of bone dysplasia with renal failure.

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Simultaneous determination of oxalate, citrate and sulfate in children's plasma with ion chromatography. Technical Note. To improve our understanding of both diagnosis and treatment of diseases of oxalate metabolism, we first set out to establish a new ion-chromatographic method to determine normal plasma levels of oxalate, citrate and sulfate from single plasma samples. In 50 infants and children (23 girls, 27 boys, aged 0.2 to 17 years) with normal renal function, blood was drawn in Li-heparin tubes, placed on ice and preserved immediately with 40 μl 1 m HCl/ml plasma in two ultracentrifugation steps. For measurement, plasma was injected onto an ion chromatography system with NaOH as the mobile phase, and then run as a linear gradient from 5 mm to 52.5 mm over 21 minutes. Analysis yielded measurable and reproducible oxalate (6.43 ± 1.06 μm/liter), citrate (79.3 ± 27.4 μm/liter) and sulfate (235.0 ± 85.3 μm/liter) levels, without any age and gender specific differences. The least detectable plasma oxalate level was < 0.3 μm with a high reliability and reproducibility (coefficient of variance 1.95 to 4.75%). In conclusion, we established a reproducible, precise method to determine the relevant plasma anions involved in mineral metabolism, which heretofore have not been easily measurable. Studies of diseases of oxalate and citrate metabolism are ongoing on the basis of the normal plasma values achieved in this study.
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Plasma calcium-oxalate saturation in children with renal insufficiency and in children with primary hyperoxaluria.
Calcium-oxalate (CaOx) deposition and systemic oxalosis are uncommon in children with chronic renal failure (CRI), but frequent in children with primary hyperoxaluria type I (PH-1). We hypothesized a difference in plasma CaOx saturation (β_CaOx) and its determining factors would explain this discrepancy.
Therefore, in addition to common biochemical measurements, plasma-oxalate (P_Ox), citrate (P_Cit) and sulfate (P_Sulf) (plasma anions) were measured and β_CaOx was calculated in 17 PH-1 patients with normal renal function receiving pyridoxine and citrate therapy, in 54 children with CRI (S_Cr 0.9 to 5.9 mg/dl), and in 50 healthy children (NL). Plasma anions were analyzed by ion-chromatography and β_CaOx was calculated using a PC-based program for solution equilibria.
Compared to NL, all plasma anion levels and β_CaOx were higher in PH-1 and CRI; P_Ox, P_Cit and β_CaOx were higher in PH-1 than in CRI (P < 0.05), but P_Sulf was higher in CRI (P < 0.01). β_CaOx and P_Ox were correlated in all groups (r = 0.63 to 0.95, P < 10^-4). P_Ox and β_CaOx were both inversely correlated to a decrease in GFR in CRI patients. P_Cit and P_Sulf did not influence β_CaOx. Although supersaturation (β_CaOx > 1) was found in 7 CRI and in 4 PH-1 patients, eye examinations were suspicious for CaOx depositions only in the PH-1 patients, while systemic oxalosis was confirmed in one PH patient because of oxalate osteopathy.
In PH-1, P_Ox and β_CaOx are elevated even with normal renal function, which increases the likelihood of CaOx crystal deposition. Therefore, more effective therapy to decrease β_CaOx is crucial to reduce the risk of systemic oxalosis. In children with CRI unknown, but presumably protective substances, help prevent the risk of systemic oxalosis, despite increased P_Ox and β_CaOx levels, often to supersaturation levels.
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Case reportHereditary sclerosing glomerulopathy in the conorenal syndrome

Abstract

Am J Med

Am J Ophthalmol

Am J Med

Am J Ophthalmol

Am J Obstet Gynecol

Associated acral and renal malformations

Birth Defects

Hereditary renal dysplasia and blindness

Acta Paediatr Scand

Phalangeal cone shaped epiphyses of the hands (PhCSEH) and chronic renal disease—The conorenal syndromes

Pediatr Radiol

The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence

Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations

Radiology

Case report
Hereditary sclerosing glomerulopathy in the conorenal syndrome