Sami A. Sanjad

American University of Beirut Medical Center

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Bilal Aoun

American University of Beirut Medical Center

Essam Al‐Sabban

King Faisal Specialist Hospital & Research Centre

Richard P. Lifton

Yale University

Fiona E. Karet

University of Cambridge

Ahmet Nayır

Istanbul University-Cerrahpaşa

Osman Alfurayh

King Faisal Specialist Hospital & Research Centre

Wajeh Y. Qunibi

The University of Texas Health Science Center at San Antonio

Ayşı̇n Bakkaloğlu

Hacettepe University

David B. Simon

Hull Royal Infirmary

Nadia Sakati

King Faisal Specialist Hospital & Research Centre

Cooperative Institutions

American University of Beirut Medical Center

King Faisal Specialist Hospital & Research Centre

American University of Beirut

Yale University

Alfaisal University

Baylor College of Medicine

Howard Hughes Medical Institute

Harvard University

Pediatrics and Genetics

Boston Children's Hospital

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Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

Nature (2012)

Lynn M. Boyden Murim Choi Keith A. Choate Carol Nelson‐Williams Anita Farhi

Cullin

Pseudohypoaldosteronism

Phenocopy

Exome

10.1038/nature10814

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Citations (604)

Bartter syndrome in a neonate: early treatment with indomethacin

Pediatric Nephrology (2000)

Chebl Mourani Sami A. Sanjad C Akatchérian

Polyuria

Bartter syndrome

Nephrocalcinosis

Polyhydramnios

10.1007/s004670050030

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Citations (23)

Five-years' experience with cadaveric kidney transplantation at King Faisal Specialist Hospital and Research Center, Riyadh.

PubMed (1992)

G Lundgren Osman Alfurayh Duffy Bb Pam Hufford Nicholls Wajeh Y. Qunibi

Cadaveric spasm

Center (category theory)

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Renal Hypoprostaglandism, Hypertension, and Type IV Renal Tubular Acidosis Reversed by Furosemide

Annals of Internal Medicine (1983)

Sami A. Sanjad

A 13-year-old white girl with severe hypertension and type IV renal tubular acidosis had decreased renal chloride clearance and exaggerated sodium chloride reabsorption by the ascending limb of Henle during hypotonic saline diuresis. Urinary prostaglandin E2 excretion was markedly diminished and often undetectable (0 to 37 ng/24 h). Treatment with oral furosemide completely reversed the hypertension and hyperkalemic acidosis, and effected a 20-fold rise in urinary prostaglandin E2. Sodium chloride reabsorption by the thick ascending limb of Henle decreased from 93.5% to 79.3%. Renal hypoprostaglandism may have a pathogenic role in this syndrome by enhancing chloride reabsorption in the ascending limb of Henle leading to extracellular fluid volume expansion, hypertension, and suppression of the renin-angiotensin-aldosterone axis. The therapeutic effects of furosemide may be partially mediated by enhancing the biosynthesis of renal prostaglandins or inhibiting their breakdown.

Renal sodium reabsorption

Plasma renin activity

Renal tubular acidosis

10.7326/0003-4819-99-5-624

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Citations (29)

Renal tubular acidosis in the arab world.

Saudi Journal of Kidney Diseases and Transplantation (2007)

Sami A. Sanjad

Renal tubular acidosis

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Citations (2)

Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients

Frontiers in Pediatrics (2020)

Bilal Aoun Sami A. Sanjad Jad A. Degheili Abir Barhoumi Amina Bassyouni

Patients and Methods: A retrospective chart review of 32 GSD- I patients, followed at the American University of Beirut Medical Center, between 2007 and 2018 was conducted. Diagnosis was confirmed by enzymatic and/or genetic studies. Clinical presentation, growth, and kidney outcome were assessed. All patients were evaluated for body mass index, blood parameters of metabolic control including uric acid, alanine, lactic acid, and triglycerides in blood. Kidney evaluation included creatinine clearance, microalbuminuria, citraturia, and calciuria as well as urine microalbumin/creatinine ratio. Results: Almost one third of GSD-I patients developed microalbuminuria. This was detected below 7 months of age in 36% of patients who required early treatment with ACEI with significant reduction in albuminuria. Kidney stones were present in 6% and were associated with hypercalciuria and hypocitraturia. Poor metabolic control reflected by hyperuricemia, lactic acidosis, and hyperalaninemia were noted only in patients who developed microalbuminuria. Conclusion: Glomerular injury may appear in early infancy in poorly controlled patients. Adequate metabolic control and ACEI therapy may improve kidney outcome in GSD I patients. Plasma alanine appears to be a promising and reliable marker reflecting metabolic control in GSD-I patients.

10.3389/fped.2020.00591

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Citations (12)

Renal tubular dysfunction following kidney transplantation: a prospective study in 31 children

Transplantation Proceedings (2001)

Sami A. Sanjad Ibrahim Aliyu S Al Shorafa Abbas Abbad Raja B. Khauli

10.1016/s0041-1345(01)02208-4

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Citations (4)

A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity

Human Genetics (1999)

Barbara Burwinkel Sami A. Sanjad E. Al-Sabban A. Al-Abbad Manfred W. Kilimann

GLUT2

Phosphorylase kinase

10.1007/s004390051095

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Citations (25)

Genetic heterogeneity of Barter's syndrome revealed by mutations in the K+ channel, ROMK

Nature Genetics (1996)

David B. Simon Fiona E. Karet Juan Rodríguez‐Soriano Jahed Hamdan Antonio DiPietro

Bartter syndrome

Bartter's syndrome

Distal convoluted tubule

Pseudohypoaldosteronism

10.1038/ng1096-152

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Citations (807)

Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: Evidence for an ancestral founder mutation and locus refinement

American Journal of Medical Genetics (1999)

George A. Díaz Bruce D. Gelb Fawad Ali Nadia Sakati Sami A. Sanjad

The Sanjad-Sakati syndrome (SSS; MIM241410), an autosomal recessive trait characterized by congenital hypoparathyroidism, growth and mental retardation, seizures, and a characteristic physiognomy, was recently linked to chromosome area 1q42-q43. SSS resembles the autosomal recessive form of Kenny-Caffey syndrome (KCS; MIM244460), with similar manifestations but lacking osteosclerosis. Since KCS was recently linked to the region 1q42-q43, the possibility that this disorder is allelic with SSS was considered. Eight Sanjad-Sakati families from Saudi Arabia were genotyped with polymorphic short tandem repeat markers from the SSS/KCS critical region. A maximum multipoint LOD score of 14.32 was obtained at marker D1S2649, confirming linkage of SSS to the same region as autosomal recessive KCS. Haplotype analysis refined the critical region to 2.6 cM and identified a rare haplotype present in all the SSS disease alleles, indicative of a common founder. In addition to the assignment of the Saudi SSS and Kuwaiti KCS syndromes to overlapping genetic intervals, comparison of the haplotypes unexpectedly demonstrated that the diseases shared an identical haplotype. This finding, combined with the clinical similarity between the two syndromes, suggests that the two conditions are not only allelic but are also caused by the same ancestral mutation. Am. J. Med. Genet. 85:48–52, 1999. © 1999 Wiley-Liss, Inc.

Founder effect

10.1002/(sici)1096-8628(19990702)85:1<48::aid-ajmg9>3.0.co;2-y

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Citations (44)